Title |
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
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Published in |
Orphanet Journal of Rare Diseases, July 2013
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DOI | 10.1186/1750-1172-8-110 |
Pubmed ID | |
Authors |
Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek |
Abstract |
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 caused by mutations in the EFTUD2 gene (OMIM *603892). |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 2% |
United States | 1 | 2% |
Unknown | 47 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 7 | 14% |
Student > Master | 5 | 10% |
Other | 4 | 8% |
Researcher | 4 | 8% |
Professor | 3 | 6% |
Other | 11 | 22% |
Unknown | 15 | 31% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 16 | 33% |
Biochemistry, Genetics and Molecular Biology | 7 | 14% |
Agricultural and Biological Sciences | 6 | 12% |
Nursing and Health Professions | 2 | 4% |
Psychology | 1 | 2% |
Other | 1 | 2% |
Unknown | 16 | 33% |