What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments....

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Detalles Bibliográficos
Autores principales: van Dijk, Tessa, Baas, Frank, Barth, Peter G., Poll-The, Bwee Tien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003036/
https://www.ncbi.nlm.nih.gov/pubmed/29903031
http://dx.doi.org/10.1186/s13023-018-0826-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003036/
https://www.ncbi.nlm.nih.gov/pubmed/29903031
http://dx.doi.org/10.1186/s13023-018-0826-2

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