Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

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 generall...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722949/
https://ncbi.nlm.nih.gov/pubmed/23188044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.251
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