{"id":111831,"date":"2025-06-12T16:15:51","date_gmt":"2025-06-12T07:15:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/"},"modified":"2025-08-22T14:13:50","modified_gmt":"2025-08-22T05:13:50","slug":"rhizomelic-chondrodysplasia-punctata-type-3","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=zh-hans","title":{"rendered":"\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u30bf\u30a4\u30d73\u3010AGPS\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=zh-hans\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=zh-hans\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=zh-hans\/#%E7%97%85%E5%90%8D%EF%BC%9A\" >\u75c5\u540d\uff1a<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/?lang=zh-hans\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\n\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7\u30bf\u30a4\u30d73\uff08Rhizomelic Chondrodysplasia Punctata type 3\uff1aRCDP3\uff09\u3068\u3044\u3046\u3001\u305f\u3044\u3078\u3093\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u4e01\u5be7\u306b\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<br>\nRCDP3\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9aa8\u3084\u767a\u9054\u3001\u76ee\u3084\u547c\u5438\u306a\u3069\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75c5\u6c17\u3067\u3059\u3002<br>\n\u305d\u306e\u539f\u56e0\u3084\u75c7\u72b6\u3001\u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u65b9\u6cd5\u3001\u65e5\u3005\u306e\u30b1\u30a2\u3084\u6cbb\u7642\u3001\u305d\u3057\u3066\u5c06\u6765\u306b\u3064\u3044\u3066\u3001\u533b\u7642\u306e\u5c02\u9580\u77e5\u8b58\u306b\u3082\u3068\u3065\u3044\u3066\u6b63\u78ba\u306b\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002<br>\n\u3054\u5bb6\u65cf\u3084\u3054\u672c\u4eba\u304c\u5c11\u3057\u3067\u3082\u5b89\u5fc3\u3057\u3066\u5411\u304d\u5408\u3048\u308b\u3088\u3046\u3001\u5c02\u9580\u7528\u8a9e\u306b\u306f\u3084\u3055\u3057\u3044\u8aac\u660e\u3082\u305d\u3048\u3066\u3044\u307e\u3059\u3002<br>\n\u304a\u5b50\u3055\u307e\u306e\u6210\u9577\u3084\u75c5\u6c17\u306e\u3053\u3068\u3067\u4e0d\u5b89\u3092\u611f\u3058\u3066\u304a\u3089\u308c\u308b\u65b9\u3001\u533b\u7642\u8005\u306e\u65b9\u3001\u7814\u7a76\u306b\u95a2\u5fc3\u306e\u3042\u308b\u65b9\u306b\u3082\u5f79\u7acb\u3064\u5185\u5bb9\u3067\u3059\u3002\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>AGPS<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/AGPS-hgtIdeo_genome_36105d_a74060-1024x25.png\" alt=\"AGPS\" class=\"wp-image-101122\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%90%8D%EF%BC%9A\"><\/span>\u75c5\u540d\uff1a<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\uff08Rhizomelic Chondrodysplasia Punctata type 3\uff09\u662f\u4e00\u79cd\u975e\u5e38\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002\u6b64\u75be\u75c5\u4f1a\u5bf9\u5a74\u513f\u7684\u9aa8\u9abc\u53d1\u80b2\u3001\u773c\u775b\u3001\u547c\u5438\u7b49\u591a\u65b9\u9762\u4ea7\u751f\u5f71\u54cd\u3002\u901a\u8fc7\u4e13\u4e1a\u7684\u533b\u5b66\u77e5\u8bc6\uff0c\u6211\u4eec\u4f1a\u4ecb\u7ecd\u8fd9\u79cd\u75be\u75c5\u7684\u6210\u56e0\u3001\u75c7\u72b6\u3001\u68c0\u67e5\u4e0e\u8bca\u65ad\u65b9\u6cd5\u3001\u65e5\u5e38\u62a4\u7406\u4e0e\u6cbb\u7597\uff0c\u4ee5\u53ca\u672a\u6765\u7684\u7ba1\u7406\u63aa\u65bd\u3002\u672c\u5185\u5bb9\u65e8\u5728\u5e2e\u52a9\u60a3\u8005\u53ca\u5176\u5bb6\u5ead\u3001\u533b\u7597\u5de5\u4f5c\u8005\u548c\u7814\u7a76\u4eba\u5458\u4e86\u89e3RCDP3\u3002<\/p>\n\n\n\n<p>\u6d89\u53ca\u57fa\u56e0\uff1a<\/p>\n\n\n\n<p>AGPS\uff08\u70f7\u57fa\u7518\u6cb9\u78f7\u9178\u5408\u6210\u9176\uff0cAlkylglycerone Phosphate Synthase\uff09<\/p>\n\n\n\n<p>\u57fa\u56e0\u6240\u5728\u67d3\u8272\u4f53\u4f4d\u7f6e\uff1a<\/p>\n\n\n\n<p>\u7b2c2\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff082q31.2\uff09<\/p>\n\n\n\n<p>\u9057\u4f20\u5f62\u5f0f\uff1a<\/p>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20<\/p>\n\n\n\n<p>\u75be\u75c5\u6982\u8ff0<\/p>\n\n\n\n<p>RCDP3\u662f\u4e00\u79cd\u7531AGPS\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u7684\u7f55\u89c1\u9057\u4f20\u75c5\u3002AGPS\u57fa\u56e0\u8d1f\u8d23\u5408\u6210\u4e00\u79cd\u5173\u952e\u9176\uff0c\u8fd9\u79cd\u9176\u5728\u7ec6\u80de\u4e2d\u7684\u201c\u8fc7\u6c27\u5316\u7269\u9176\u4f53\u201d\u5185\u53d1\u6325\u4f5c\u7528\uff0c\u5408\u6210\u540d\u4e3a\u201c\u78f7\u8102\u9170\u7518\u6cb9\u201d\uff08Plasmalogen\uff09\u7684\u7279\u6b8a\u8102\u8d28\u3002\u78f7\u8102\u9170\u7518\u6cb9\u5bf9\u4e8e\u795e\u7ecf\u3001\u5fc3\u810f\u3001\u80ba\u7b49\u7ec6\u80de\u819c\u81f3\u5173\u91cd\u8981\u3002\u8be5\u75c5\u7684\u5173\u952e\u7279\u5f81\u4e3aAGPS\u57fa\u56e0\u7a81\u53d8\u5bfc\u81f4\u7684\u9176\u529f\u80fd\u7f3a\u5931\uff0c\u4ece\u800c\u4f7f\u5f97\u78f7\u8102\u9170\u7518\u6cb9\u7684\u5408\u6210\u505c\u6b62\uff0c\u5f71\u54cd\u8eab\u4f53\u7684\u591a\u4e2a\u7cfb\u7edf\u548c\u53d1\u80b2\u3002<\/p>\n\n\n\n<p>\u6d41\u884c\u75c5\u5b66<\/p>\n\n\n\n<p>RCDP\u7684\u603b\u4f53\u53d1\u75c5\u7387\u7ea6\u4e3a\u6bcf10\u4e07\u51fa\u751f0.5\u81f30.7\u4f8b\u3002RCDP3\u66f4\u4e3a\u7f55\u89c1\uff0c\u5168\u7403\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u786e\u8ba4\u7684\u75c5\u4f8b\u4e0d\u523010\u4f8b\u3002\u901a\u8fc7\u9057\u4f20\u5b66\u68c0\u6d4b\u5f97\u77e5\uff0c\u9884\u8ba1\u5728\u7f8e\u56fd\u548c\u6b27\u6d32\u7684\u4e94\u5927\u56fd\u5bb6\uff08\u82f1\u56fd\u3001\u5fb7\u56fd\u3001\u6cd5\u56fd\u3001\u610f\u5927\u5229\u3001\u897f\u73ed\u7259\uff09\uff0c\u6bcf\u5e74\u65b0\u53d1\u75c5\u4f8b\u5c11\u4e8e1\u4f8b\u3002<\/p>\n\n\n\n<p>\u75c5\u56e0<\/p>\n\n\n\n<p>RCDP3\u7684\u53d1\u751f\u662f\u7531\u4e8e\u6765\u81ea\u7236\u6bcd\u7684AGPS\u57fa\u56e0\u7a81\u53d8\u3002\u8fd9\u79cd\u7a81\u53d8\u5bfc\u81f4\u78f7\u8102\u9170\u7518\u6cb9\u7684\u5408\u6210\u505c\u6b62\u3002\u78f7\u8102\u9170\u7518\u6cb9\u5728\u7ec6\u80de\u819c\u7684\u67d4\u97e7\u6027\u3001\u795e\u7ecf\u4fdd\u62a4\u4ee5\u53ca\u6297\u6c27\u5316\u529f\u80fd\u4e2d\u53d1\u6325\u7740\u91cd\u8981\u4f5c\u7528\uff0c\u56e0\u6b64\u5176\u7f3a\u5931\u4f1a\u5bfc\u81f4\u591a\u79cd\u8eab\u4f53\u529f\u80fd\u548c\u53d1\u80b2\u969c\u788d\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6<\/p>\n\n\n\n<p>\u5178\u578b\u75c7\u72b6\uff08\u7ecf\u5178RCDP3\uff09<\/p>\n\n\n\n<p>\u9aa8\u9abc\u5f02\u5e38\uff1a \u4e0a\u81c2\u9aa8\u548c\u5927\u817f\u9aa8\u77ed\u7f29\uff08\u79f0\u4e3a\u201c\u8282\u6bb5\u6027\u9aa8\u7f29\u77ed\u201d\u6216\u201cRhizomelia\u201d\uff09\u3001\u9aa8\u7aef\u90e8\u77f3\u7070\u5316\uff08\u70b9\u72b6\u5f02\u5f62\u6210\uff09\u3001\u810a\u67f1\u7578\u5f62\u3002<\/p>\n\n\n\n<p>\u9762\u90e8\u7279\u5f81\uff1a \u989d\u90e8\u5bbd\u5927\u3001\u773c\u775b\u95f4\u8ddd\u5bbd\u3001\u9762\u90e8\u4e2d\u592e\u51f9\u9677\uff08\u4e2d\u9762\u4f4e\u5f62\u6210\uff09\u3001\u5c0f\u5de7\u4e0a\u7fd8\u7684\u9f3b\u5b50\u3001\u8033\u6735\u4f4d\u4e8e\u8f83\u4f4e\u4f4d\u7f6e\u3002<\/p>\n\n\n\n<p>\u773c\u90e8\u5f02\u5e38\uff1a \u767d\u5185\u969c\uff08\u51fa\u751f\u65f6\u6216\u5a74\u513f\u671f\u65e9\u671f\u51fa\u73b0\uff09\u3001\u659c\u89c6\u3001\u773c\u7403\u9707\u98a4\u3002<\/p>\n\n\n\n<p>\u795e\u7ecf\u7cfb\u7edf\u75c7\u72b6\uff1a \u91cd\u5ea6\u667a\u529b\u969c\u788d\u3001\u766b\u75eb\u3001\u808c\u8089\u7d27\u5f20\u6216\u5f20\u529b\u5f02\u5e38\uff08\u4f8b\u5982\u5047\u6b7b\u6216\u75c9\u631b\uff09\u3002<\/p>\n\n\n\n<p>\u751f\u957f\u969c\u788d\uff1a \u51fa\u751f\u65f6\u660e\u663e\u4f4e\u8eab\u9ad8\u548c\u4f4e\u4f53\u91cd\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u7cfb\u7edf\uff1a \u53cd\u590d\u80ba\u708e\u6216\u547c\u5438\u8870\u7aed\u3002<\/p>\n\n\n\n<p>\u5fc3\u810f\u5f02\u5e38\uff1a \u6cd5\u6d1b\u56db\u8054\u75c7\u7b49\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3002<\/p>\n\n\n\n<p>\u8f7b\u75c7\u578b\uff08\u975e\u5178\u578b\u578b\uff09<\/p>\n\n\n\n<p>\u6709\u90e8\u5206\u60a3\u8005\u53ef\u4ee5\u81ea\u884c\u8d70\u8def\u5e76\u4f7f\u7528\u7b80\u5355\u7684\u8bed\u8a00\u3002<\/p>\n\n\n\n<p>\u5173\u8282\u631b\u7f29\u548c\u810a\u67f1\u4fa7\u5f2f\u3002<\/p>\n\n\n\n<p>\u53d1\u80b2\u969c\u788d\uff08\u5982\u6ce8\u610f\u529b\u7f3a\u9677\u591a\u52a8\u75c7\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u5f3a\u8feb\u75c7\u3001\u7126\u8651\u75c7\u7b49\uff09\u3002<\/p>\n\n\n\n<p>\u90e8\u5206\u60a3\u8005\u53ef\u4ee5\u5b58\u6d3b\u81f3\u9752\u6625\u671f\u6216\u6210\u5e74\u3002<\/p>\n\n\n\n<p>\u8bca\u65ad\u4e0e\u68c0\u67e5<\/p>\n\n\n\n<p>\u751f\u5316\u68c0\u67e5\uff1a<\/p>\n\n\n\n<p>\u7ea2\u7ec6\u80de\u4e2d\u78f7\u8102\u9170\u7518\u6cb9\u7684\u542b\u91cf\u964d\u4f4e\uff0c\u5178\u578b\u75c5\u4f8b\u51e0\u4e4e\u65e0\u6cd5\u68c0\u6d4b\u5230\uff0c\u8f7b\u75c7\u75c5\u4f8b\u4f1a\u6709\u6240\u6b8b\u7559\u3002<\/p>\n\n\n\n<p>\u8840\u4e2d\u690d\u7269\u9178\uff08Phytanic acid\uff09\u6d53\u5ea6\u5347\u9ad8\uff0c\u662f\u8102\u8d28\u4ee3\u8c22\u5f02\u5e38\u7684\u6807\u5fd7\u3002<\/p>\n\n\n\n<p>\u8d85\u957f\u94fe\u8102\u80aa\u9178\uff08VLCFA\uff09\u901a\u5e38\u6b63\u5e38\u6216\u8f7b\u5fae\u5347\u9ad8\u3002<\/p>\n\n\n\n<p>\u5f71\u50cf\u5b66\u68c0\u67e5\uff1a<\/p>\n\n\n\n<p>X\u5149\uff1a\u56db\u80a2\u8fd1\u7aef\u7684\u77ed\u7f29\u548c\u9aa8\u7aef\u7684\u70b9\u72b6\u9499\u5316\u3002<\/p>\n\n\n\n<p>MRI\uff08\u8111\u90e8\uff09\uff1a\u767d\u8d28\u5f02\u5e38\u3001\u8111\u840e\u7f29\u3002<\/p>\n\n\n\n<p>\u8d85\u58f0\u68c0\u67e5\uff1a\u9acb\u5173\u8282\u8131\u4f4d\u3002<\/p>\n\n\n\n<p>\u5fc3\u810f\u8d85\u58f0\uff1a\u68c0\u67e5\u5fc3\u810f\u7ed3\u6784\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u9057\u4f20\u5b66\u68c0\u6d4b\uff1a<\/p>\n\n\n\n<p>AGPS\u57fa\u56e0\u7684\u5168\u5916\u663e\u5b50\u5206\u6790\uff08Sanger\u6cd5\u6216\u5168\u5916\u663e\u5b50\u6d4b\u5e8f\uff09\u786e\u8ba4\u75c5\u53d8\u7a81\u53d8\u3002<\/p>\n\n\n\n<p>\u6cbb\u7597\u4e0e\u7ba1\u7406<\/p>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u6839\u6cbbRCDP3\u7684\u6cbb\u7597\u65b9\u6cd5\uff0c\u6cbb\u7597\u4e3b\u8981\u4ee5\u6539\u5584\u60a3\u8005\u7684\u751f\u6d3b\u8d28\u91cf\u4e3a\u76ee\u6807\u3002\u5efa\u8bae\u8fdb\u884c\u4ee5\u4e0b\u4e13\u4e1a\u62a4\u7406\uff1a<\/p>\n\n\n\n<p>\u773c\u79d1\u7ba1\u7406\uff1a 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id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.7759\/cureus.20543\">Shawli, Aiman M., et al. \u2018A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report\u2019. <em>Cureus<\/em>, Dec. 2021. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.7759\/cureus.20543.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12349\">Fallatah, Wedad, et al. \u2018Clinical, Biochemical, and Molecular Characterization of Mild (Nonclassic) Rhizomelic Chondrodysplasia Punctata\u2019. <em>Journal of Inherited Metabolic Disease<\/em>, vol. 44, no. 4, July 2021, pp. 1021\u201338. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/jimd.12349.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.21623\">Itzkovitz, Brandon, et al. \u2018Functional Characterization of Novel Mutations in GNPAT and AGPS, Causing Rhizomelic Chondrodysplasia Punctata (RCDP) Types 2 and 3\u2019. <em>Human Mutation<\/em>, vol. 33, no. 1, Jan. 2012, pp. 189\u201397. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/humu.21623.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-021-01889-z\">Luisman, T., Smith, T., Ritchie, S. <em>et al.<\/em> Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata. <em>Orphanet J Rare Dis<\/em> <strong>16<\/strong>, 300 (2021). https:\/\/doi.org\/10.1186\/s13023-021-01889-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7, RCDP3, AGPS\u6b20\u640d\u75c7, \u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u6b20\u640d, \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5, \u9aa8\u5f62\u6210\u7570\u5e38, \u767d\u5185\u969c, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/a>, \u8102\u8cea\u4ee3\u8b1d\u7570\u5e38, \u70b9\u72b6\u9aa8\u7aef\u7570\u5f62\u6210, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>, \u767a\u9054\u9045\u6ede, 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