TSEN54 mutations cause pontocerebellar hypoplasia type 5

Pontocerebellar hypoplasia (PCH) is a group of autosomal recessive neurodegenerative disorders characterized by prenatal onset of stunted brain growth and progressive atrophy predominantly affecting cerebellum, pons and olivary nuclei, and to a lesser extent also the cerebral cortex. Six subtypes (P...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Namavar, Yasmin, Chitayat, David, Barth, Peter G, van Ruissen, Fred, de Wissel, Marit B, Poll-The, Bwee Tien, Silver, Rachel, Baas, Frank
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3110057/
https://ncbi.nlm.nih.gov/pubmed/21368912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.8
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados