Natural course of pontocerebellar hypoplasia type 2A

INTRODUCTION: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was...

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Detalles Bibliográficos
Autores principales: Sánchez-Albisua, Iciar, Frölich, Saskia, Barth, Peter G, Steinlin, Maja, Krägeloh-Mann, Ingeborg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019562/
https://www.ncbi.nlm.nih.gov/pubmed/24886362
http://dx.doi.org/10.1186/1750-1172-9-70

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019562/
https://www.ncbi.nlm.nih.gov/pubmed/24886362
http://dx.doi.org/10.1186/1750-1172-9-70

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