American Journal of Human Genetics 2007 Andre Megarbane - Abstracts

American Journal of Human Genetics 2007 Andre Megarbane
TitleSubjectAuthors
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.Biological sciencesHans-Hilger Ropers, Andre Megarbane, Stefan Mundlos, Eva Klopocki, Harald Schulze, Gabriele Straub, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luigard M. Neumann, Rolf Habenicht, Rainer Konig, Eva Seemanova, Reinhard Ullmann, Denise Horn
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.Biological sciencesAndre Megarbane, Eliane Chouery, Lynn Adaimy, Valerie Delague, Hanen Belguith, Philippe de Mazancourt, Hala Megarbane, Salman Mroueh, Elsa Nicolas
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.Biological sciencesMalika Chaouch, Georg Haase, Andre Megarbane, Eliane Chouery, Valerie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cecile Baudot, Irene Boccaccio, Nora Kassouri, Rosette Jabbour, Djamel Grid, Nicolas Levy
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