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pro vyhledávání: '"Sophie Bisiaux"'
Autor:
Hubert Journel, Sophie Bisiaux, Joris Andrieux, Jelana Martinovic, Louise Devisme, Muriel Holder-Espinasse, Dominique Bonneau, Alice Goldenberg, Mathilde Baux, Jean-Pierre Kerckaert, Caroline Chaffiotte, Ali Houeijeh, Fabienne Escande, Sylvie Manouvrier-Hanu, Albert David, Pascale Saugier-Veber, Marc Fouassier
Publikováno v:
European Journal of Medical Genetics. 54:e471-e477
Thrombocytopenia-absent radius Syndrome (TAR) is a rare congenital malformation syndrome of complicated transmission. 1q21.1 deletion is necessary but not sufficient for its expression. We report the result of a French multicentric clinical study, an