[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/1292#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/1292","headline":"Perrault-Syndrome-Wikipedia","name":"Perrault-Syndrome-Wikipedia","description":"before-content-x4 perrault-syndrome \u30db\u30e2\u63a5\u5408\u306e\u5973\u6027\u306b\u306f\u30b4\u30ca\u30c7\u30f3\u30c7\u30a3\u30b9\u30b8\u30a7\u30cd\u30ea\u30fc\u3068\u3001\u4e21\u65b9\u306e\u6027\u5225\u3067\u3088\u308a\u591a\u304f\u306e\u8074\u899a\u8074\u899a\u3092\u8074\u304f\u3053\u3068\u304c\u3067\u304d\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002 [\u521d\u3081] [2] after-content-x4 \u540c\u7fa9\u8a9e\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 xx-gonadendysgenesie put taubheit; \u82f1\u8a9e Gonadal Dysgenesis\u3001XX Type\u3001\u96e3\u8074\u3002\u611f\u899a\u7684\u96e3\u8074\u3092\u4f34\u3046\u5375\u5de3\u767a\u80b2\u690d\u7269; Gonadal Dysgenesis\u3001XX\u30bf\u30a4\u30d7 \u3053\u306e\u7528\u8a9e\u306f\u30011951\u5e74\u304b\u3089\u306e\u6700\u521d\u306e\u8aac\u660e\u306e\u6700\u521d\u306e\u30aa\u30d5\u3001\u30d5\u30e9\u30f3\u30b9\u306eM. Perrault\u3001B\u3002Klotz\u3001\u304a\u3088\u3073E. Housnet\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002 [3]","datePublished":"2022-06-07","dateModified":"2022-06-07","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\/1292","wordCount":995,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4 perrault-syndrome \u30db\u30e2\u63a5\u5408\u306e\u5973\u6027\u306b\u306f\u30b4\u30ca\u30c7\u30f3\u30c7\u30a3\u30b9\u30b8\u30a7\u30cd\u30ea\u30fc\u3068\u3001\u4e21\u65b9\u306e\u6027\u5225\u3067\u3088\u308a\u591a\u304f\u306e\u8074\u899a\u8074\u899a\u3092\u8074\u304f\u3053\u3068\u304c\u3067\u304d\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002 [\u521d\u3081] [2]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4\u540c\u7fa9\u8a9e\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 xx-gonadendysgenesie put taubheit; \u82f1\u8a9e  Gonadal Dysgenesis\u3001XX Type\u3001\u96e3\u8074\u3002\u611f\u899a\u7684\u96e3\u8074\u3092\u4f34\u3046\u5375\u5de3\u767a\u80b2\u690d\u7269; Gonadal Dysgenesis\u3001XX\u30bf\u30a4\u30d7  \u3053\u306e\u7528\u8a9e\u306f\u30011951\u5e74\u304b\u3089\u306e\u6700\u521d\u306e\u8aac\u660e\u306e\u6700\u521d\u306e\u30aa\u30d5\u3001\u30d5\u30e9\u30f3\u30b9\u306eM. Perrault\u3001B\u3002Klotz\u3001\u304a\u3088\u3073E. Housnet\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002 [3] \u983b\u5ea6\u306f1\u301c1,000,000\u672a\u6e80\u306e\u3088\u3046\u306b\u4e0e\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u307e\u3067\u306b30\u4eba\u4ee5\u4e0a\u306e\u5f71\u97ff\u3092\u53d7\u3051\u305f\u4eba\u3005\u304c15\u306e\u5bb6\u65cf\u3067\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306b\u8d77\u3053\u308a\u307e\u3059\u3002 [2]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4\u57fa\u790e\u3068\u306a\u308b\u7a81\u7136\u5909\u7570\u306b\u5fdc\u3058\u3066\u3001\u6b21\u306e\u30bf\u30a4\u30d7\u3092\u533a\u5225\u3067\u304d\u307e\u3059\u3002 \u81e8\u5e8a\u57fa\u6e96\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 [\u521d\u3081] [2] \u3055\u3089\u306b\u3001\u904b\u52d5\u5931\u8abf\u3001\u7570\u4e73\u5264\u3001\u591a\u767a\u6027\u75c7\u306a\u3069\u306e\u795e\u7d4c\u5b66\u7684\u7570\u5e38\u304c\u6765\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30de\u30eb\u30d5\u30a1\u30ce\u30a4\u30c9\u306e\u4f53\u683c\u3082\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002 [\u5341] \u8a3a\u65ad\u306f\u3001\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\u304c\u4f4e\u4e0b\u3057\u305f\u81e8\u5e8a\u6240\u898b\u3001\u30db\u30eb\u30e2\u30f3\u3001\u795e\u7d4c\u5b66\u7684\u7814\u7a76\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002 [2]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4\u64ec\u4f3c\u30bc\u30eb\u30ef\u30a4\u30ac\u30fc\u75c7\u5019\u7fa4\u3068\u306f\u308b\u304b\u306b\u4e00\u822c\u7684\u306a\u4f53\u64cd\u75c7\u5019\u7fa4\u3092\u533a\u5225\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002 [2] \u5e73\u5747\u5bff\u547d\u306f\u6b63\u5e38\u3067\u3059\u3002\u3053\u306e\u30b3\u30fc\u30b9\u306f\u3001\u672c\u8cea\u7684\u306b\u795e\u7d4c\u5b66\u7684\u5909\u5316\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002 [2] J.\u305d\u306e\u5f8c\u3001L\u3002\u30e9\u30f3\u30c0\u30fc\u30c9\u3001N\u3002\u30e9\u30f3\u30b2\u30f3\u3001S\u3002\u30c8\u30ec\u30a4\u30ba\u3001D\u3002\u30c8\u30e9\u30f3\u30bb\u3001S\u3002\u30c9\u30ae\u30fc\u3001A\u3002\u30ac\u30f3\u30cb\u30c3\u30c1\u3001\u30d5\u30eb\u30e0\u30ec\u30fc\u30f3\u3001P\u3002\u30a8\u30b0\u30bc\u30ea\u30fc\u3001S\u3002\u30c0\u30cb\u30b1\u30f3\u3001S\u3002\u30c9\u30a4\u30ca\u30f3\uff1aS\u3002\u30a8\u30d5\u30a7\u30cb\u30fc\uff1a Perrault\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u5206\u5b50\u8abf\u67fb\u306e\u305f\u3081\u306eNGS\u306e\u5fdc\u7528\uff1a14\u306e\u5bb6\u65cf\u306e\u7814\u7a76\u3068\u6587\u732e\u306e\u30ec\u30d3\u30e5\u30fc\u3002 \u306e\uff1a \u4eba\u9593\u306e\u7a81\u7136\u5909\u7570\u3002 \u7b2c37\u5dfb\u3001\u756a\u53f712\u30012016\u5e7412\u6708\u3001pp\u30021354\u20131362\u3001 doi:10.1002\/humu.23120 \u3001 PMID 27650058 \uff08\u30ec\u30d3\u30e5\u30fc\uff09\u3002 A. K. K. K. K. K. K. Choudary\u3001B\u3002K\u3002K. K. K.Lartas\u3001B\u3002 \u6210\u9577\u30db\u30eb\u30e2\u30f3\u6b20\u4e4f\u75c7\u306e\u30da\u30e9\u30eb\u75c7\u5019\u7fa4\uff1a\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u969c\u5bb3\u3002 \u306e\uff1a Journal of Pediatric\u5185\u5206\u6ccc\u5b66\u3068\u4ee3\u8b1d\uff1aJPEM\u3002 \u30d0\u30f3\u30c928\u3001\u756a\u53f79\u301c10\u30012015\u5e749\u6708\u3001S\u30021005\u20131007\u3001 2\uff1a10.1515\/jpem-2014-0292 \u3001 PMID 25741941 \u3002 S.\u30de\u30fc\u30ea\u30f3\u3001D\u3002\u30e9\u30b3\u30f3\u30d9\u3001L\u3002\u30b8\u30e7\u30ca\u30fc\u30c9\u3001N\u3002\u30ec\u30d6\u30fc\u30e9\u30f3\u30b8\u30e3\u30fc\u3001D\u3002\u30dc\u30ce\u30fc\u3001C\u3002\u30b4\u30fc\u30bc\u30c3\u30c8\u3001T\u3002B\u3002\u30c7\u30d3\u30ec\u30e0\u30fc\u30eb\u3001S\u3002\u30ab\u30d6\u30ed\u30fc\u30eb\u3001M\u3002\u30d5\u30a2\u30f3\u3001L\u3002\u30e2\u30a2\u30c3\u30c6\u30a3\u3001D\u3002\u30d5\u30a7\u30eb\u30c9\u30de\u30f3\u3001F\u3002\u30c7\u30ce\u30a4\u30a8\u30eb\uff1a Perrault\u75c7\u5019\u7fa4\uff1a\u5019\u88dc\u907a\u4f1d\u5b50\u306e\u30ec\u30d3\u30e5\u30fc\u3068\u9664\u5916\u306e4\u3064\u306e\u65b0\u3057\u3044\u75c7\u4f8b\u306e\u5831\u544a\u3002 \u306e\uff1a American Journal of Medical Genetics\u3002\u30d1\u30fc\u30c8A. \u30dc\u30ea\u30e5\u30fc\u30e0146A\u30015\u756a\u30012008\u5e743\u6708\u3001661\u301c664\u30da\u30fc\u30b8\u3001 doi\uff1a10.1002\/ajmg.a.32180 \u3001 PMID 18241061 \u3002 \u2191 a b  Bernfried Leiber\uff08Founder\uff09\uff1a \u81e8\u5e8a\u75c7\u5019\u7fa4\u3002\u75c7\u5019\u7fa4\u3001\u914d\u5217\u3001\u304a\u3088\u3073\u75c7\u72b6\u8907\u5408\u4f53 \u3002 ed\u3002\uff1aG. Burg\u3001J\u3002Kunze\u3001D\u3002Pongratz\u3001P\u3002G\u3002Scheurlen\u3001A\u3002Schinzel\u3001J\u3002Spranger\u3002 7.\u3001\u307e\u3063\u305f\u304f\u65b0\u3057\u3044\u3002\u7248\u3002 \u30d0\u30f3\u30c9  2 \uff1a \u75c7\u72b6 \u3002\u30a2\u30fc\u30d0\u30f3\uff06\u30b7\u30e5\u30ef\u30eb\u30bc\u30f3\u30d0\u30fc\u30b0\u3001\u30df\u30e5\u30f3\u30d8\u30f3\u3001a\u3002 1990\u3001ISBN 3-541-01727-9\u3002   \u2191 a b c d \u305d\u3046\u3067\u3059 f  Perrault\u75c7\u5019\u7fa4\u3002 \u306e\uff1a \u5b64\u5150\u9662 \uff08\u5e0c\u5c11\u75be\u60a3\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u3002  \u2191  M. Perralt\u3001Bul Ven\u3001E\u3002Hussele\uff1a \u540c\u3058\u5144\u5f1f\u306e\u904e\u5270\u6d78\u6f64\u3092\u4f34\u3046\u30bf\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\u306e2\u4f8b\u3002 \u306e\uff1a \u30d1\u30ea\u306e\u30db\u30b9\u30c8\u306e\u533b\u5b66\u4f1a\u306e\u901f\u5831\u3068\u56de\u60f3\u9332\u3002 bd\u3002 67\u3001\u3044\u3044\u3048\u3002 3\u20134\u30011951 Jan 26-Feb 2\u3001pp\u300279\u201384\u3001 PMID 14821788 \u3002  \u2191  Perrault\u75c7\u5019\u7fa41\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  Perrault\u75c7\u5019\u7fa42\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  Perrault\u75c7\u5019\u7fa43\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  Perrault\u75c7\u5019\u7fa44\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  Perrault\u75c7\u5019\u7fa45\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  Perrault\u75c7\u5019\u7fa46\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  M. Zerkaoui\u3001L\u3002A\u3002\u660e\u65e5\u3001I\u3002CherkaouiJaouad\u3001I\u3002Ratbi\u3001K\u3002Amjoud\u3001J\u3002E\u3002Urquhart\u3001J\u3002O’Sullivan\u3001W\u3002G\u3002Newman\u3001A\u3002Sefiani\uff1a \u30de\u30eb\u30d5\u30a1\u30ce\u30a4\u30c9\u306e\u7fd2\u6163\u306f\u3001Perrault\u75c7\u5019\u7fa4\u306e\u975e\u7279\u7570\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002 \u306e\uff1a \u81e8\u5e8a\u969c\u5bb3\u3002 \u30d0\u30f3\u30c926\u3001\u30ca\u30f3\u30d0\u30fc4\u30012017\u5e7410\u6708\u3001S\u3002200\u2013204\u3001 doi\uff1a10.1097\/mcd.0000000000000198 \u3001 PMID 28832386 \u3002  \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\/1292#breadcrumbitem","name":"Perrault-Syndrome-Wikipedia"}}]}]