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Putoux\u3001A\u3002Alqahtan\u3001L\u3002Pinson\u3001A\u3002D. Paulussen\u3001J\u3002Michel\u3001A\u3002Besson\u3001S\u3002Mazoyer\u3001I\u3002Borg\u3001S\u3002Nampoothiri\u3001A\u3002Vasiljevic\u3001A\u3002Uwineza\u3001D\u3002Boggio\u3001F\u3002Champion\u3001C\u3002Perez\u3001Y\u3002Musizzano\u3001F\u3002Razavi\u3001a\u3002gu gu\u3001A\u3002\u30e9\u30f4\u30a3\u30eb\u3001G\u3002\u30ec\u30b9\u30ab\u3001P\u3002\u30a8\u30c7\u30ea\u30fc\uff1a Taybi-Linder\u75c7\u5019\u7fa4\u306e\u8868\u73fe\u578b\u304a\u3088\u3073\u7a81\u7136\u5909\u7570\u30b9\u30da\u30af\u30c8\u30eb\u306e\u6539\u826f\u3002 \u306e\uff1a \u81e8\u5e8a\u907a\u4f1d\u5b66\u3002 \u30d0\u30f3\u30c990\u3001\u30ca\u30f3\u30d0\u30fc6\u300112 2016\u3001S\u3002550\u2013555\u3001 2\uff1a10.1111\/cge.12781 \u3001 PMID 27040866 \u3002 M. J.\u30d4\u30a2\u30b9\u3001R\u3002P\u3002\u30e2\u30fc\u30eb\u30b9\uff1a Taybi-Linder\u75c7\u5019\u7fa4\uff08MOPD I\/III\uff09\u306e\u795e\u7d4c\u5b66\u7684\u6240\u898b\uff1a\u75c7\u4f8b\u5831\u544a\u3068\u6587\u732e\u306e\u30ec\u30d3\u30e5\u30fc\u3002 \u306e\uff1a American Journal of Medical Genetics\u3002\u30d1\u30fc\u30c8A. \u30dc\u30ea\u30e5\u30fc\u30e0158A\u3001\u756a\u53f73\u30012012\u5e743\u6708\u3001pp\u3002606\u2013610\u3001 doi\uff1a10.1002\/ajmg.a.33958 \u3001 PMID 22302400 \uff08\u30ec\u30d3\u30e5\u30fc\uff09\u3002 S. Sigaudy\u3001A\u3002Toutain\u3001A\u3002Moncla\u3001C\u3002Fredouille\u3001B\u3002Bourli\u00e8re\u3001S\u3002Ayme\u3001N\u3002Philip\uff1a \u5c0f\u982d\u75c7\u306e\u9aa8\u9aa8\u5f62\u6210\u539f\u59cb\u5c0f\u4eba\u75c7Taybi-Linder\u30bf\u30a4\u30d7\uff1a4\u3064\u306e\u75c7\u4f8b\u306e\u5831\u544a\u3068\u6587\u732e\u306e\u30ec\u30d3\u30e5\u30fc\u3002 \u306e\uff1a American Journal of Medical Genetics\u3002 \u30d0\u30f3\u30c980\u3001\u30ca\u30f3\u30d0\u30fc1\u30011998\u5e7410\u6708\u3001S\u300216\u201324\u3001 PMID 9800907 \uff08\u30ec\u30d3\u30e5\u30fc\uff09\u3002 \u2191 a b c d \u305d\u3046\u3067\u3059  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  \u5c0f\u3055\u306a\u6210\u9577\u3001\u5c0f\u982d\u75c7\u306e\u9aa8\u5f62\u6210\u539f\u59cb\u3001I\u578b\u304a\u3088\u3073III\u3002 \u306e\uff1a \u5b64\u5150\u9662 \uff08\u5e0c\u5c11\u75be\u60a3\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u3002  \u2191  \u8ab0\u304c\u305d\u308c\u3092\u540d\u524d\u306b\u3057\u305f\u306e\u304b  \u2191  H.\u30c6\u30a4\u30d3\u3001D\u3002\u30ea\u30f3\u30c0\u30fc\uff1a \u982d\u9aa8\u683c\u7570\u5f62\u6210\u306b\u3088\u308b\u5148\u5929\u6027\u5bb6\u65cf\u6027\u5c0f\u8178\u75c7\u3002 \u306e\uff1a \u653e\u5c04\u7dda\u5b66 bd\u3002 89\u3001S\u3002275\u2013281\u30011967\u3002  \u2191  \u5c0f\u982d\u75c7\u306e\u9aa8\u9aa8\u5f62\u6210\u539f\u59cb\u5c0f\u4eba\u75c7\u3001\u30bf\u30a4\u30d7I. \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09  \u2191  F. Majewski\u3001T\u3002Goecke\uff1a \u5c0f\u982d\u75c7\u306e\u539f\u59cb\u5c0f\u4eba\u75c7\u306e\u7814\u7a76I\uff1a\u30bb\u30af\u30b1\u30eb\u75c7\u5019\u7fa4\u306e\u63cf\u5199\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3002 \u306e\uff1a American Journal of Medical Genetics\u3002 \u30d0\u30f3\u30c912\u3001\u30ca\u30f3\u30d0\u30fc1\u3001MAI 1982\u3001S\u30027\u201321\u3001 2\uff1a10.1002\/ajmg.1320120103 \u3001 PMID 7046443 \uff08\u30ec\u30d3\u30e5\u30fc\uff09\u3002  \u2191  F. Majewski\u3001M\u3002Ranke\u3001A\u3002Schinzel\uff1a \u5c0f\u982d\u75c7\u306e\u539f\u59cb\u5c0f\u4eba\u75c7\u306e\u7814\u7a76II\uff1a\u539f\u59cb\u5c0f\u4eba\u75c7\u306e\u9aa8\u5f62\u6210\u578bII\u3002 \u306e\uff1a American Journal of Medical Genetics\u3002 \u30d0\u30f3\u30c912\u3001\u30ca\u30f3\u30d0\u30fc1\u3001MAI 1982\u3001S\u300223\u201335\u3001 2\uff1a10.1002\/ajmg.1320120104 \u3001 PMID 7201238 \u3002  \u2191  F. Majewski\u3001M\u3002Stoeckenius\u3001H\u3002Kemperdick\uff1a \u5c0f\u982d\u75c7\u306e\u539f\u59cb\u5c0f\u4eba\u75c7\u306e\u7814\u7a76III\uff1a\u9aa8\u76e4\u3068\u9396\u9aa8\u306e\u9aa8\u76e4\u3068\u9396\u9aa8\u306e\u7570\u5e38\u3092\u5099\u3048\u305f\u5b50\u5bae\u5185d\u661f –  osteodysplastic\u539f\u59cb\u5c0f\u4eba\u578bIII\u3002 \u306e\uff1a American Journal of Medical Genetics\u3002 \u30d0\u30f3\u30c912\u3001\u30ca\u30f3\u30d0\u30fc1\u3001MAI 1982\u3001S\u300237\u201342\u3001 2\uff1a10.1002\/ajmg.1320120105 \u3001 PMID 7201239 \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\/1473#breadcrumbitem","name":"Taybi-Ilder-Wyngroma-\u30d3\u30c7\u30aa"}}]}]