A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and ofte...

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Detalles Bibliográficos
Autores principales: van Dijk, Tessa, Vermeij, Jan-Dirk, van Koningsbruggen, Silvana, Lakeman, Phillis, Baas, Frank, Poll-The, Bwee Tien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2018
Materias:
Images in Metabolic Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133186/
https://www.ncbi.nlm.nih.gov/pubmed/29464431
http://dx.doi.org/10.1007/s10545-018-0151-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133186/
https://www.ncbi.nlm.nih.gov/pubmed/29464431
http://dx.doi.org/10.1007/s10545-018-0151-x

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