[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/21224#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/21224","headline":"ATR-16-Syndrom-Wikipedia","name":"ATR-16-Syndrom-Wikipedia","description":"before-content-x4 ATR-16\u75c7\u5019\u7fa4 \u982d\u90e8\u5186\u5468\uff08\u5c0f\u982d\u75c7\uff09\u3068\u7cbe\u795e\u9045\u6ede\u304c\u5c0f\u3055\u3059\u304e\u308b\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u308b\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002 [\u521d\u3081] after-content-x4 \u540c\u7fa9\u8a9e\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 \u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\/\u77e5\u7684\u9045\u6ede\u75c7\u5019\u7fa4\u3001\u6b20\u5931\u30bf\u30a4\u30d7\u3002\u6b20\u5931\u75c7\u5019\u7fa416p; ATR\u3001\u524a\u9664\u30bf\u30a4\u30d7\u3002\u67d3\u8272\u4f5316 P\u6b20\u5931\u75c7\u5019\u7fa4; \u82f1\u8a9e \u30d8\u30e2\u30b0\u30ed\u30d3\u30f3H\u95a2\u9023\u306e\u7cbe\u795e\u9045\u6ede\uff08HBHR\uff09 \u975e\u95a2\u9023\u578b\u3068\u3057\u3066\u306eATR-X\u75c7\u5019\u7fa4\u3068\u306f\u5bfe\u7167\u7684\u306b\u3001ATR-16\u75c7\u5019\u7fa4\u306b\u306f\u4e16\u4ee3\u304c\u3042\u308a\u307e\u3059\u3002 \u6700\u521d\u306e\u8aac\u660e\u306f\u30011981\u5e74\u306eD. J. Weatherall\u3068\u5f93\u696d\u54e1\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002 [2] after-content-x4 \u983b\u5ea6\u306f1\u301c1,000,000\u672a\u6e80\u306e\u3088\u3046\u306b\u4e0e\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u307e\u3067\u306b20\u4ee5\u4e0a\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u306f\u5e38\u67d3\u8272\u4f53\u512a\u4f4d\u306b\u306a\u308a\u307e\u3059\u3002 [\u521d\u3081] \u3053\u306e\u75be\u60a3\u306f\u3001\u67d3\u8272\u4f53\u30ae\u30e3\u30f3\u30b0\uff08PTER\uff09P13.3","datePublished":"2023-01-06","dateModified":"2023-01-06","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/author\/lordneo#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/author\/lordneo","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/0\/03\/P_medicine_caution.svg\/25px-P_medicine_caution.svg.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/0\/03\/P_medicine_caution.svg\/25px-P_medicine_caution.svg.png","height":"29","width":"25"},"url":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/21224","wordCount":732,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4 ATR-16\u75c7\u5019\u7fa4 \u982d\u90e8\u5186\u5468\uff08\u5c0f\u982d\u75c7\uff09\u3068\u7cbe\u795e\u9045\u6ede\u304c\u5c0f\u3055\u3059\u304e\u308b\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u308b\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002 [\u521d\u3081]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4\u540c\u7fa9\u8a9e\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 \u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\/\u77e5\u7684\u9045\u6ede\u75c7\u5019\u7fa4\u3001\u6b20\u5931\u30bf\u30a4\u30d7\u3002\u6b20\u5931\u75c7\u5019\u7fa416p; ATR\u3001\u524a\u9664\u30bf\u30a4\u30d7\u3002\u67d3\u8272\u4f5316 P\u6b20\u5931\u75c7\u5019\u7fa4; \u82f1\u8a9e  \u30d8\u30e2\u30b0\u30ed\u30d3\u30f3H\u95a2\u9023\u306e\u7cbe\u795e\u9045\u6ede\uff08HBHR\uff09  \u975e\u95a2\u9023\u578b\u3068\u3057\u3066\u306eATR-X\u75c7\u5019\u7fa4\u3068\u306f\u5bfe\u7167\u7684\u306b\u3001ATR-16\u75c7\u5019\u7fa4\u306b\u306f\u4e16\u4ee3\u304c\u3042\u308a\u307e\u3059\u3002 \u6700\u521d\u306e\u8aac\u660e\u306f\u30011981\u5e74\u306eD. J. Weatherall\u3068\u5f93\u696d\u54e1\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002 [2]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4\u983b\u5ea6\u306f1\u301c1,000,000\u672a\u6e80\u306e\u3088\u3046\u306b\u4e0e\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u307e\u3067\u306b20\u4ee5\u4e0a\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u306f\u5e38\u67d3\u8272\u4f53\u512a\u4f4d\u306b\u306a\u308a\u307e\u3059\u3002 [\u521d\u3081] \u3053\u306e\u75be\u60a3\u306f\u3001\u67d3\u8272\u4f53\u30ae\u30e3\u30f3\u30b0\uff08PTER\uff09P13.3 Zuge\u306e\u30c6\u30ed\u30e1\u30cb\u30c6\u30a3\u9818\u57df\u306e\u67d3\u8272\u4f5316\u306e\u77ed\u3044\u8155\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u907a\u4f1d\u5b50HBA1\u304a\u3088\u3073HBA2\u306b\u95a2\u4fc2\u3057\u3001\u30a2\u30eb\u30d5\u30a1\u30bf\u30e9\u30bb\u30df\u30a2\u306e\u539f\u56e0\u3067\u3042\u308a\u3001\u7cbe\u795e\u4fdd\u6301\u306e\u539f\u56e0\u3068\u3057\u3066\u306eSOX8\u907a\u4f1d\u5b50\u306e\u6b20\u9665\u3082\u3042\u308a\u307e\u3059\u3002 [3] \u75c5\u6c17\u306e\u59cb\u307e\u308a\u306f\u3059\u3067\u306b\u65b0\u751f\u5150\u307e\u305f\u306f\u5e7c\u5150\u306b\u3042\u308a\u307e\u3059\u3002\u8868\u73fe\u306e\u7a0b\u5ea6\u306f\u975e\u5e38\u306b\u7570\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3001\u30a4\u30af\u30c6\u30e9\u30b9\u3001\u809d\u3001\u813e\u816b\u306a\u3069\u306e\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\u306e\u5146\u5019\u306b\u52a0\u3048\u3066\u3001\u5c0f\u982d\u75c7\u3068\u7cbe\u795e\u9045\u5ef6\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u9ad8\u30c6\u30ed\u30ea\u30ba\u30e0\u306a\u3069\u306e\u9854\u9762\u7570\u5e38\u306e\u5146\u5019\u3001\u9f3b\u306e\u6839\u3001\u5c0f\u3055\u306a\u8033\u306e\u30ab\u30c3\u30d7\u3001\u5c0f\u3055\u306a\u6210\u9577\u3001\u30af\u30e9\u30d6\u30d5\u30c3\u30c8\u3001hypospadie\u3001condyprochism\u3092\u5f37\u8abf\u3057\u3066\u3044\u307e\u3059\u3002 [\u521d\u3081] \u8a3a\u65ad\u306f\u81e8\u5e8a\u6240\u898b\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u751f\u3058\u3001\u30d2\u30c8\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u8840\u6db2\u8840\u6e05\u306b\u306f\u3001\u5fae\u5c0f\u7403\u75c7\u3001\u6b63\u5e38\u307e\u305f\u306f\u308f\u305a\u304b\u306b\u5c48\u8fb1\u7684\u306a\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u3092\u4f34\u3046\u5fae\u5c0f\u7403\u75c7\u304c\u3042\u308a\u307e\u3059\u3002 [\u521d\u3081]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4ATR-X\u75c7\u5019\u7fa4\u306f\u3001\u3055\u307e\u3056\u307e\u306a\u907a\u4f1d\u7684\u5909\u5316\u3068\u3001\u4ed6\u306e\u539f\u56e0\u306e\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\u3068\u77e5\u7684\u969c\u5bb3\u306e\u540c\u6642\u767a\u751f\u306e\u305f\u3081\u306b\u5206\u5316\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002 [\u521d\u3081] C. Babbs\u3001J\u3002Brown\u3001S\u3002W\u3002Horsley\u3001J\u3002Slater\u3001E\u3002Maifoshie\u3001S\u3002Kumar\u3001P\u3002Ooijevaar\u3001M\u3002Kriek\u3001A\u3002Dixon-Mciver\u3001C\u3002L\u3002Harteveld\u3001J\u3002 ATR-16\u75c7\u5019\u7fa4\uff1a\u5358\u578b\u3068\u8868\u73fe\u578b\u3092\u7d50\u3073\u3064\u3051\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u3002 \u306e\uff1a Journal of Medical Genetics\u3002 \u30d0\u30f3\u30c957\u3001\u30ca\u30f3\u30d0\u30fc6\u300106 2020\u3001S\u3002414\u2013421\u3001 2\uff1a10.1136\/jmedgenet-2019-106528 \u3001 PMID 32005695 \u3001 PMC 7279195 \uff08\u7121\u6599\u306e\u5168\u6587\uff09\u3002 E. Holinski-Feder\u3001E\u3002Reyniers\u3001S\u3002Uhrig\u3001A\u3002Golla\u3001J\u3002Wauters\u3001P\u3002Bossuyt\u3001I\u3002Rost\u3001K\u3002Jedele\u3001H\u3002Zierler\u3001S\u3002Schwab\u3001D\u3002Wildenauer\u3001M\u3002R\u3002Speicher\u3001P\u3002J\u3002Willems\u3001T\u3002Meitiner\u3001R\u3002F\u3002Kooy\uff1a \u5bb6\u65cf\u6027\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4ATR-16\u907a\u4f1d\u6027\u306e\u8b0e\u3081\u3044\u305f\u30b5\u30d6\u30c6\u30ed\u30e1\u30a2\u8ee2\u5ea7\u3001t\uff083; 16\uff09\uff08q29; p13.3\uff09\u306b\u3088\u308b\u3002 \u306e\uff1a American Journal of Human Genetics\u3002 \u30d0\u30f3\u30c966\u3001\u30ca\u30f3\u30d0\u30fc1\u30012000\u5e741\u6708\u300116-25\u30da\u30fc\u30b8\u3001 ISSN 0002-9297 \u3002 doi\uff1a10.1086\/302703 \u3002 PMID 10631133 \u3002 PMC 1288322 \uff08\u7121\u6599\u306e\u5168\u6587\uff09\u3002 D. Pfeifer\u3001F\u3002Poulat\u3001E\u3002Holinski-Feder\u3001F\u3002Kooy\u3001G\u3002Scherer\uff1a SOX8\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f5316p\u306e\u5148\u7aef\u304b\u3089700 kb\u4ee5\u5185\u306b\u4f4d\u7f6e\u3057\u3001ATR-16\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3067\u524a\u9664\u3055\u308c\u3066\u3044\u307e\u3059\u3002 \u306e\uff1a \u30b2\u30ce\u30df\u30af\u30b9\u3002 \u30d0\u30f3\u30c963\u3001\u30ca\u30f3\u30d0\u30fc1\u30012000\u5e741\u6708\u3001pp\u3002108\u2013116\u3001 ISSN 0888-7543 \u3002 2\uff1a10.1006\/geno.1999.6060 \u3002 PMID 10662550 \u3002 \u2191 a b c d \u305d\u3046\u3067\u3059  \u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\u30a4\u30f3\u30c6\u30ea\u30b8\u30a7\u30f3\u30b9\u6e1b\u5c11\u75c7\u5019\u7fa4\u3001Chr\u300216\u306b\u7d50\u5408\u3002 \u306e\uff1a \u5b64\u5150\u9662 \uff08\u5e0c\u5c11\u75be\u60a3\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u3002  \u2191  D. J.\u30a6\u30a7\u30b6\u30fc\u30aa\u30fc\u30eb\u3001D\u3002R\u3002\u30d2\u30c3\u30b0\u30b9\u3001C\u3002\u30d0\u30f3\u30c1\u3001J\u3002M\u3002\u30aa\u30fc\u30eb\u30c9\u3001D\u3002M\u3002\u30cf\u30f3\u30c8\u3001L\u3002\u30d7\u30ec\u30b9\u30ea\u30fc\u3001J\u3002B\u3002\u30af\u30ec\u30c3\u30b0\u3001N\u3002C\u3002\u30d9\u30b9\u30ec\u30f3\u30d5\u30a1\u30eb\u30d9\u30a4\u3001S\u3002 \u30d8\u30e2\u30b0\u30ed\u30d3\u30f3H\u75be\u60a3\u3068\u7cbe\u795e\u9045\u6ede\uff1a\u65b0\u3057\u3044\u75c7\u5019\u7fa4\u307e\u305f\u306f\u9a5a\u304f\u3079\u304d\u5076\u7136\u306e\u4e00\u81f4\uff1f \u306e\uff1a \u30cb\u30e5\u30fc\u30a4\u30f3\u30b0\u30e9\u30f3\u30c9\u533b\u5b66\u30b8\u30e3\u30fc\u30ca\u30eb\u3002 \u30d0\u30f3\u30c9305\u3001\u756a\u53f711\u30011981\u5e749\u6708\u3001S\u3002607\u2013612\u3001 doi\uff1a10.1056\/nejm198109103051103 \u3001 PMID 6267462 \u3002  \u2191  ATR-16\u75c7\u5019\u7fa4\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u5065\u5eb7\u554f\u984c\u3092\u6271\u3044\u307e\u3059\u3002\u5f7c\u306f\u4ed5\u3048\u307e\u3059 \u3044\u3044\u3048 \u81ea\u5df1\u8a3a\u65ad\u3068\u4ea4\u63db \u3044\u3044\u3048 \u533b\u5e2b\u306b\u3088\u308b\u8a3a\u65ad\u3002\u5065\u5eb7\u554f\u984c\u306b\u95a2\u3059\u308b\u30e1\u30e2\u306b\u6ce8\u610f\u3057\u3066\u304f\u3060\u3055\u3044\uff01       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/21224#breadcrumbitem","name":"ATR-16-Syndrom-Wikipedia"}}]}]