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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Discover STM Publishing Ltd
2019-06-01
|
| Cyfres: | Journal of Biochemical and Clinical Genetics |
| Pynciau: | |
| Mynediad Ar-lein: | http://www.ejmanager.com/fulltextpdf.php?mno=25159 |
| Tagiau: |
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|