Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

BACKGROUND: Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being t...

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Main Authors: Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana
格式: Artigo
語言:Inglês
出版: BioMed Central 2012
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3351739/
https://ncbi.nlm.nih.gov/pubmed/22452838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-18
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