{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:41:26Z","timestamp":1791348086987,"version":"4.3.1"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T00:00:00Z","timestamp":1396915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on two male sibs, a fetus and a newborn, with short humeri and dysmorphic facial features including blepharophimosis. The newborn also had Hirschsprung disease. Goldberg\u2013Shprintzen syndrome and the Say\u2013Barber\u2013Biesecker\u2013Young\u2013Simpson type of Ohdo syndrome were suspected but direct sequencing of <jats:italic>KBP<\/jats:italic> and <jats:italic>KAT6B<\/jats:italic> failed to identify a mutation. Finally, direct sequencing of <jats:italic>MED12<\/jats:italic>, the gene mutated in Opitz\u2013Kaveggia syndrome, Lujan\u2013Fryns syndrome and X\u2010linked Ohdo syndrome identified in the two sibs the missense mutation c.3443G&gt;A (p.Arg1148His) inherited from the mother. This report further expands the phenotypic spectrum of <jats:italic>MED12<\/jats:italic> mutations. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36539","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T21:52:30Z","timestamp":1396993950000},"page":"1821-1825","source":"Crossref","is-referenced-by-count":18,"title":["Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of <i>MED12<\/i> mutations"],"prefix":"10.1002","volume":"164","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes Nantes France"},{"name":"INSERM UMR\u2010S 957 Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiphaine","family":"Lefebvre","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine","family":"Le Vaillant","sequence":"additional","affiliation":[{"name":"Service de gyn\u00e9cologie obst\u00e9trique CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00eblle","family":"Caillaud","sequence":"additional","affiliation":[{"name":"Service de n\u00e9onatologie CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs CHU de Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Jossic","sequence":"additional","affiliation":[{"name":"Service d'anatomie pathologique CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Joubert","sequence":"additional","affiliation":[{"name":"Service d'anatomie pathologique CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Winer","sequence":"additional","affiliation":[{"name":"Service de gyn\u00e9cologie obst\u00e9trique CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guntram","family":"Borck","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Ulm Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pelet","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre hospitalier Universitaire &amp; 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