Article
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
European journal of human genetics : EJHG - 1 Jul 2013
El Chehadeh-Djebbar Salima, Blair Edward, Holder-Espinasse Muriel, Moncla Anne, Frances Anne-Marie, Rio Marlène, Debray François-Guillaume, Rump Patrick, Masurel-Paulet Alice, Gigot Nadège, Callier Patrick, Duplomb Laurence, Aral Bernard, Huet Frédéric, Thauvin-Robinet Christel, Faivre Laurence
Abstract excerpt
Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is generally raised after school age, when visual disturbances lead to CRD diagnosis and to VPS13B gene testing. This...
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