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...
Spremljeno u:
| Glavni autori: | , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Discover STM Publishing Ltd
2019-06-01
|
| Serija: | Journal of Biochemical and Clinical Genetics |
| Teme: | |
| Online pristup: | http://www.ejmanager.com/fulltextpdf.php?mno=25159 |
| Oznake: |
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|