학술논문
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
Document Type
Article
Author
El Chehadeh, S.; Gigot, N.; Thauvin-Robinet, C.; Masurel-Paulet, A.; Huet, F.; Faivre, L.; Aral, B.; Donzel, A.; Teyssier, J.-R.; Delrue, M.-A.; Lacombe, D.; David, A.; Burglen, L.; Afenjar, A.; Philip, N.; Moncla, A.; Cormier-Daire, V.; Rio, M.; Edery, P.; Verloes, A.; Bonneau, D.; Jacquette, A.; Heron, D.; Sarda, P.; Pinson, L.; Doray, B.; Vigneron, J.; Leheup, B.; Frances-Guidet, A.-M.; Dienne, G.; Holder, M.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, August 2010, 47(8):549-553)
Subject
Language
English
ISSN
00222593
14686244
14686244