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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group 2013
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars