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
scientific article published on August 2010
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author: Valérie Cormier-Daire, Dominique Bonneau, Didier Lacombe, Alain Verloes, Alexandra Afenjar, Delphine Héron, Patrick Edery, Laurence Faivre, Christel Thauvin-Robinet, Alice Masurel-Paulet, Salima El Chehadeh
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