{"id":111792,"date":"2024-11-14T12:06:38","date_gmt":"2024-11-14T03:06:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/"},"modified":"2025-08-22T13:51:57","modified_gmt":"2025-08-22T04:51:57","slug":"williams_beuren","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=en","title":{"rendered":"About Williams-Beuren Syndrome (Williams Syndrome)"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=en\/#Article_Summary\" >Article Summary<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=en\/#Overview\" >Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=en\/#Causes_and_Diagnosis\" >Causes and Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=en\/#Symptoms_and_Management\" >Symptoms and Management<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=en\/#Prognosis\" >Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=en\/#reference\" >reference<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"Article_Summary\"><\/span>Article Summary<span class=\"ez-toc-section-end\"><\/span><\/h2><p>Williams Syndrome (WS) is a rare genetic disorder that affects neurodevelopment, physical features, and the cardiovascular and endocrine systems. This article provides up-to-date information on the symptoms, diagnosis, and treatment of WS. It highlights the importance of early diagnosis and comprehensive care, and offers guidance on how to support patients and their families in achieving a better quality of life.<\/p><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Overview\"><\/span>Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/7q11.23-hgtIdeo_genome_93c07_b20020-1024x23.png\" alt=\"7q11.23\" class=\"wp-image-88871\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Williams Syndrome (WS) is a rare genetic disorder that affects multiple body systems, most notably neurodevelopment. It is characterized by a combination of distinct physical features, developmental challenges, and various medical complications.<\/p>\n\n\n\n<p>People with WS often have characteristic facial features, such as a broad forehead, a narrow temple area, puffiness around the eyes, star-like or lace-patterned irises, a short upturned nose with a rounded tip, a long philtrum (the area between the nose and upper lip), a wide mouth, full lips, and mild underdevelopment of the lower jaw (micrognathia).<\/p>\n\n\n\n<p>Developmental and intellectual delays are also common in WS. Intellectual disability is typically mild, though individuals often have a unique cognitive profile. Language skills tend to be a relative strength, whereas spatial reasoning is often an area of difficulty. Many individuals also display a distinct personality, often characterized by extreme friendliness (overfriendliness) and difficulty regulating emotions.<\/p>\n\n\n\n<p>Cardiovascular involvement is another hallmark of WS. The most common cardiac issue is supravalvular aortic stenosis (narrowing above the aortic valve). Other cardiovascular problems can include peripheral pulmonary artery stenosis and hypertension. In addition, connective tissue abnormalities\u2014such as joint hyperflexibility and overly elastic skin\u2014are common and can contribute to delayed motor development. Low muscle tone (hypotonia) and excessive joint flexibility often delay the acquisition of motor milestones.<\/p>\n\n\n\n<p>Endocrine problems are also frequently seen in WS. These may include early-onset puberty (precocious puberty), elevated calcium levels in the blood (hypercalcemia) or urine (hypercalciuria), and hypothyroidism. Many individuals experience growth delays, often resulting in shorter adult stature compared to average. Feeding difficulties during infancy and slow weight gain are also common.<\/p>\n\n\n\n<p>WS affects approximately 1 in 7,500 individuals, with males and females equally affected. Because the impact of this syndrome spans multiple systems, comprehensive multidisciplinary care tailored to each patient\u2019s needs is essential.<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24474970_s.jpg\" alt=\"\u5b89\u5b9a\u306a\u6301\u3061\u65b9\" class=\"wp-image-87719\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/smith-lemli-opitz-dhcr7-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3010DHCR7\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3002\u4fdd\u8b77\u8005\u5411\u3051\u306e\u5b89\u5fc3\u3067\u304d\u308b\u60c5\u5831\u63d0\u4f9b\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Causes_and_Diagnosis\"><\/span>Causes and Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Williams Syndrome (WS), also known as Williams-Beuren Syndrome, is caused by the deletion of a specific region on chromosome 7 (7q11.23). This deletion typically spans 1.5\u20131.8 megabases (Mb) and involves approximately 25\u201328 genes. In most cases, this deletion occurs spontaneously and is not inherited from the parents.<\/p>\n\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr7-MddSfJbXVScYYCJQYcAAAOcK.png\" alt=\"ch7\" class=\"wp-image-88880\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>The deleted region is flanked by areas of low copy repeats (LCRs), which are repetitive sequences. During the process of meiosis (the formation of eggs or sperm), these repetitive sequences may misalign due to their high similarity, resulting in unequal crossing-over and causing the deletion responsible for WS. Among the genes affected, the <strong>elastin gene (ELN)<\/strong> is the most studied. Loss of one copy of the ELN gene (haploinsufficiency) is directly linked to arterial stenosis, one of the most common clinical features of WS. While other genes within the deleted region are also implicated in the syndrome, many of their specific roles remain unclear, though some genotype-phenotype correlations have been established.<\/p>\n\n\n\n<p>Because this deletion affects multiple genes, it explains the wide range of physical characteristics, developmental challenges, and medical issues seen in WS. Therefore, diagnosis and management often require a comprehensive, multidisciplinary approach.Diagnosis of WS typically begins with recognition of the syndrome\u2019s characteristic physical and developmental features (phenotype) and is confirmed through genetic testing. Common diagnostic tools include <strong>fluorescence in situ hybridization (FISH)<\/strong> and <strong>chromosomal microarray analysis<\/strong>, both of which detect deletions in the 7q11.23 region. With advances in DNA sequencing technology, <strong>non-invasive prenatal testing (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)<\/strong> has become a reliable and safe option for detecting WS during pregnancy, posing no risk to the mother or fetus.<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"text-align: center;\">\n    <a title=\"Williams Syndrome Association, CC BY-SA 4.0 &lt;https:\/\/creativecommons.org\/licenses\/by-sa\/4.0&gt;, via Wikimedia Commons\" href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Four_kids_with_Williams_syndrome.jpg\">\n        <img decoding=\"async\" width=\"512\" alt=\"Four children with several facial features characteristic of Williams syndrome.\" src=\"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/e\/e5\/Four_kids_with_Williams_syndrome.jpg\/512px-Four_kids_with_Williams_syndrome.jpg?20230803011724\">\n    <\/a>\n<\/div>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Genetic counseling is an important part of managing WS and should be offered to affected families. Most cases are <strong>de novo<\/strong> (spontaneous), meaning the deletion is not inherited from the parents. As a result, the recurrence risk in future pregnancies is very low (less than 1%). However, if an individual with WS has children, there is a 50% chance of passing the deletion to their offspring. In rare cases, the presence of certain inversion polymorphisms in the chromosomal region may slightly increase the risk of having a child with WS.<\/p>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/genetic-counseling\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u5fc5\u8981\uff1f\u5185\u5bb9\u3084\u91cd\u8981\u6027\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001NIPT\u306b\u304a\u3051\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5fc5\u8981\u6027\u3084\u5177\u4f53\u7684\u306a\u5185\u5bb9\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u691c\u67fb\u3092\u53d7\u3051\u308b\u524d\u306e\u6ce8\u610f\u70b9\u3084\u3001\u5f8c\u6094\u3057\u306a\u3044\u305f\u3081\u306e\u5224\u65ad\u57fa\u6e96...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms_and_Management\"><\/span>Symptoms and Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Williams Syndrome (WS) is a complex neurodevelopmental disorder caused by the deletion of the 7q11.23 region on chromosome 7. In about 95% of cases, the deletion is around 1.5 Mb, but in approximately 1 in 20 cases, a larger 1.84 Mb deletion is present. WS affects multiple systems, causing characteristic facial features, developmental delays, cognitive challenges, and a range of medical problems.<\/p>\n\n\n\n<p>All individuals with WS have distinctive facial features (craniofacial dysmorphism). In early childhood, these include epicanthal folds (skin folds at the inner corner of the eyes), full cheeks, a flat facial profile, and small, widely spaced teeth. As they grow, their face often becomes more elongated, and their neck may appear longer. Developmental milestones such as walking and language acquisition are typically delayed, and approximately 75% of individuals have intellectual disabilities. Cognitively, language and short-term memory are relative strengths, but significant deficits in visuospatial processing are common. Personality traits often include marked sociability and a deep interest in music, though hypersensitivity to sound (due to absent auditory reflexes) is also frequently observed. Emotional regulation difficulties are common, and about 50% of individuals require support for anxiety disorders or attention-deficit\/hyperactivity disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>).<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295073_s.jpg\" alt=\"\u304a\u3066\u3066\" class=\"wp-image-87378\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Cardiovascular problems are present in about 80% of individuals with WS. The most common issue is <strong>supravalvular aortic stenosis<\/strong>, affecting around 70% of patients. Other cardiovascular problems include hypertension (50%) and degenerative changes of the aortic or mitral valves. Endocrine abnormalities are also common, with 15\u201345% of patients experiencing hypercalcemia, glucose intolerance, or type 2 diabetes; 15\u201330% experiencing subclinical hypothyroidism; and 50% experiencing reduced bone mineral density (osteopenia or osteoporosis). Additional issues can include axial hypotonia (weakness in trunk muscles), increased limb tone (hypertonia), brisk reflexes, cerebellar ataxia, tremors, growth delays (about 75% of the normal rate), hyperflexible joints in early childhood, joint contractures with age, gait abnormalities, spinal issues (lordosis, kyphosis, scoliosis), eye, ear, and dental anomalies, sleep disturbances, feeding difficulties, gastrointestinal problems, bladder diverticula, urinary tract malformations, urinary tract infections, and nocturnal enuresis.Management of WS requires a <strong>lifelong, multidisciplinary approach<\/strong>. Cardiac evaluations during the first year of life and close monitoring of calcium levels during the first two years are especially important. Surgical procedures carry higher cardiovascular risks, making careful pre- and postoperative planning essential. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> intervention programs\u2014including physical, occupational, and speech therapy\u2014are critical for addressing developmental delays. Providing information and access to support groups for patients, families, and caregivers can significantly improve quality of life.<\/p>\n\n\n\n<p>Although the genetic basis of WS is well understood, the molecular mechanisms underlying its diverse symptoms remain incompletely explained. Recent genome-wide studies have identified abnormal gene pathways potentially associated with WS, providing new directions for research and the development of targeted therapies.<\/p>\n\n\n\n<div style=\"height:12px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span>Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The average life expectancy of individuals with WS has not been formally established, but cardiovascular complications remain the leading cause of death. Vascular narrowing often progresses during the first five years of life but may improve spontaneously in cases like peripheral pulmonary artery stenosis. Most individuals require lifelong medical care and daily support at home or in work environments.<\/p>\n\n\n\n<p>Recent studies have shown favorable long-term outcomes for WS patients undergoing cardiovascular surgery. For those who survive the first five years after congenital heart defect surgery, the survival rate over the next 30 years exceeds 90%. Advances in medical care and accessibility have steadily improved the prognosis for children with WS. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> and accurate diagnosis, particularly through non-invasive prenatal testing, allows families to prepare adequately and seek timely medical interventions.<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"reference\"><\/span>reference<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1249\/\">Morris CA. Williams Syndrome. 1999 Apr 9 [Updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1249\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/emmm.200900003\">Li, H. H., Roy, M., Kuscuoglu, U., Spencer, C. M., Halm, B., Harrison, K. C., Bayle, J. H., Splendore, A., Ding, F., Meltzer, L. A., Wright, E., Paylor, R., Deisseroth, K., &amp; Francke, U. (2009). Induced chromosome deletions cause hypersociability and other features of Williams\u2013Beuren syndrome in mice. <em>EMBO Molecular Medicine<\/em>, <em>1<\/em>(1), 50\u201365. https:\/\/doi.org\/10.1002\/emmm.200900003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00018-008-8401-y\">Schubert, C. (2009). The genomic basis of the Williams \u2013 Beuren syndrome. <em>Cellular and Molecular Life Sciences<\/em>, <em>66<\/em>(7), 1178\u20131197. https:\/\/doi.org\/10.1007\/s00018-008-8401-y<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41597-019-0281-5\">De Cegli, R., Iacobacci, S., Fedele, A., Ballabio, A., &amp; Di Bernardo, D. (2019). A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells. <em>Scientific Data<\/em>, <em>6<\/em>(1), 262. https:\/\/doi.org\/10.1038\/s41597-019-0281-5<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.amjcard.2022.10.037\">Zinyandu, T., Montero, A. J., Thomas, A. S., Sassis, L., Kefala-Karli, P., Knight, J., &amp; Kochilas, L. K. (2023). Thirty-Year Survival After Cardiac Surgery in Children With Williams-Beuren Syndrome (from the Pediatric Cardiac Care Consortium Study). <em>The American journal of cardiology<\/em>, <em>187<\/em>, 48\u201353. https:\/\/doi.org\/10.1016\/j.amjcard.2022.10.037<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/904?name=Williams-Beuren%20syndrome&amp;mode=name\">Orphanet. (Last updated March 2021). <em>Williams syndrome.<\/em> Reviewed by Dr Pernille GREGERSEN, Dr Mette HANDRUP, Dr Anne LEEGAARD. Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/904?name=Williams-Beuren%20syndrome&amp;mode=name<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n","protected":false},"excerpt":{"rendered":"Article SummaryWilli&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87785,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-111792","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111792","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=111792"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111792\/revisions"}],"predecessor-version":[{"id":111811,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111792\/revisions\/111811"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87785"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111792"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111792"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111792"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}