Article
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
European journal of human genetics : EJHG - 1 Jun 2011
Namavar Yasmin, Chitayat David, Barth Peter G, van Ruissen Fred, de Wissel Marit B, Poll-The Bwee Tien, Silver Rachel, Baas Frank
Abstract excerpt
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 (PCH1-6) were described and genes for four types (PCH1, 2, 4 and 6) were identified. Mutations in the tRNA splicing...
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