Carregant...

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....

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Bayrakli, Fatih, Canpolat, Mehmet, Per, Huseyin, Gumus, Hakan, Kumandas, Sefer, Kartal, Ugur, Balaban, Hatice
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3934806/
https://ncbi.nlm.nih.gov/pubmed/24575028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000357172
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!