Article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Orphanet journal of rare diseases - 24 Jul 2013
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
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.