A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23

BACKGROUND: Cerebellar hypoplasia (CH) is a rare malformation caused by various etiologies, usually manifesting clinically as nonprogressive cerebellar ataxia with or without mental retardation. The molecular pathogenesis of the autosomal recessive cerebellar ataxias has a wide range of mechanisms....

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Detalles Bibliográficos
Autores principales: Bayrakli, Fatih, Canpolat, Mehmet, Per, Huseyin, Gumus, Hakan, Kumandas, Sefer, Kartal, Ugur, Balaban, Hatice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Published online: January, 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934806/
https://www.ncbi.nlm.nih.gov/pubmed/24575028
http://dx.doi.org/10.1159/000357172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934806/
https://www.ncbi.nlm.nih.gov/pubmed/24575028
http://dx.doi.org/10.1159/000357172

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