Article
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.
Journal of medical genetics - 1 Aug 2010
El Chehadeh Salima, Aral Bernard, Gigot Nadège, Thauvin-Robinet Christel, Donzel Anne, Delrue Marie-Ange, Lacombe Didier, David Albert, Burglen Lydie, Philip Nicole, Moncla Anne, Cormier-Daire Valérie, Rio Marlène, Edery Patrick, Verloes Alain, Bonneau Dominique, Afenjar Alexandra, Jacquette Aurélia, Heron Delphine, Sarda Pierre, Pinson Lucile, Doray Bérénice, Vigneron Jacqueline, Leheup Bruno, Frances-Guidet Anne-Marie, Dienne Gwenaelle, Holder Muriel, Masurel-Paulet Alice, Huet Frédéric, Teyssier Jean-Raymond, Faivre Laurence
Abstract excerpt
BACKGROUND: Cohen syndrome is a rare autosomal recessive inherited disorder that results from mutations of the VPS13B gene. Clinical features consist of a combination of mental retardation, facial dysmorphism, postnatal microcephaly, truncal obesity, slender extremities, joint hyperextensibility, myopia, progressive chorioretinal dystrophy, and intermittent neutropenia. PATIENTS AND METHODS: The aim of the study...
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