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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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
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Discover STM Publishing Ltd
2019-06-01
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| Serier: | Journal of Biochemical and Clinical Genetics |
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| Online adgang: | http://www.ejmanager.com/fulltextpdf.php?mno=25159 |
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