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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351739/
https://www.ncbi.nlm.nih.gov/pubmed/22452838
http://dx.doi.org/10.1186/1750-1172-7-18

Ejemplares similares

Ejemplares similares