{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:03:34Z","timestamp":1791295414556,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,4,2]],"date-time":"2014-04-02T00:00:00Z","timestamp":1396396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:p>Myhre syndrome (<jats:styled-content style=\"fixed-case\">MS<\/jats:styled-content>) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other features include brachydactyly, short stature, intellectual deficiency with behavioral problems and deafness. We identified <jats:italic><jats:styled-content style=\"fixed-case\">SMAD4<\/jats:styled-content><\/jats:italic> as the gene responsible for <jats:styled-content style=\"fixed-case\">MS<\/jats:styled-content>. The identification of <jats:italic><jats:styled-content style=\"fixed-case\">SMAD4<\/jats:styled-content><\/jats:italic> mutations in Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature (<jats:styled-content style=\"fixed-case\">LAPS<\/jats:styled-content>) cases supports that <jats:styled-content style=\"fixed-case\">LAPS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">MS<\/jats:styled-content> are a unique entity. The long\u2010term follow up of patients shows that these conditions are progressive with life threatening complications. All mutations are <jats:italic>de novo<\/jats:italic> and changing in the majority of cases Ile500, located in the <jats:styled-content style=\"fixed-case\">MH2<\/jats:styled-content> domain involved in transcriptional activation. We further showed an impairment of the transcriptional regulation via <jats:styled-content style=\"fixed-case\">TGF\u03b2<\/jats:styled-content> target genes in patient fibroblasts. Finally, the absence of <jats:italic><jats:styled-content style=\"fixed-case\">SMAD4<\/jats:styled-content><\/jats:italic> mutations in three <jats:styled-content style=\"fixed-case\">MS<\/jats:styled-content> cases may support genetic heterogeneity.<\/jats:p>","DOI":"10.1111\/cge.12365","type":"journal-article","created":{"date-parts":[[2014,3,3]],"date-time":"2014-03-03T09:28:42Z","timestamp":1393838922000},"page":"503-513","source":"Crossref","is-referenced-by-count":40,"title":["Myhre syndrome"],"prefix":"10.1111","volume":"85","author":[{"given":"C.","family":"Le Goff","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Unit\u00e9 INSERM U1163, Universit\u00e9 Paris Descartes\u2013Sorbonne Paris Cit\u00e9, Institut Imagine, H\u00f4pital Necker Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Michot","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, 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