Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

BACKGROUND: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions cau...

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Detalles Bibliográficos
Autores principales: Voigt, Claudia, Mégarbané, André, Neveling, Kornelia, Czeschik, Johanna Christina, Albrecht, Beate, Callewaert, Bert, von Deimling, Florian, Hehr, Andreas, Falkenberg Smeland, Marie, König, Rainer, Kuechler, Alma, Marcelis, Carlo, Puiu, Maria, Reardon, Willie, Riise Stensland, Hilde Monica Frostad, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Martin, Marcel, Rahmann, Sven, Hehr, Ute, Brunner, Han G, Lüdecke, Hermann-Josef, Wieczorek, Dagmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727992/
https://www.ncbi.nlm.nih.gov/pubmed/23879989
http://dx.doi.org/10.1186/1750-1172-8-110

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