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

Autor: Voigt, C., Megarbane, A., Neveling, K., Czeschik, J.C., Albrecht, B., Callewaert, B., Deimling, F. von, Hehr, A., Smeland, M. Falkenberg, Konig, R., Kuechler, A., Marcelis, C., Puiu, M., Reardon, W., Stensland, H.M. Riise, Schweiger, B., Steehouwer, M., Teller, C., Martin, M., Rahmann, S., Hehr, U., Brunner, H.G., Ludecke, H.J., Wieczorek, D.

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.110. ⟨10.1186/1750-1172-8-110⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.110. ⟨10.1186/1750-1172-8-110⟩
Orphanet Journal of Rare Diseases, 8, 110
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, 8, pp. 110

Contains fulltext : 185259.pdf (Publisher’s version ) (Open Access) 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::32b86caed57b3fd3f4e04b97561e1fba
https://doi.org/10.1186/1750-1172-8-110

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