Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.

Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.

Background: A very few diseases are reported caused due to cerebellar hypoplasia and neuronal migration defects like pachygyria. Cerebellar Ataxia, mental retardation, and Dysequilibrium Syndrome 1 (DES) (OMIM # 224050) are one among such group of diseases. DES is caused due to a homozygous mutation...

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Bibliographic Details
Main Authors: Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2019-06-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
vldl receptor
dysequilibrium syndrome
pachygyria
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=25159

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