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....

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Bayrakli, Fatih, Canpolat, Mehmet, Per, Huseyin, Gumus, Hakan, Kumandas, Sefer, Kartal, Ugur, Balaban, Hatice
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2014
Schlagworte:
Published online: January, 2014
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge