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PTRHD1 (C2orf79) mutations lead to autosomal recessive intellectual disability and parkinsonism
BACKGROUND: We aimed to identify the disease-causing mutations in a consanguineous family featuring intellectual disability and parkinsonism. METHODS: Full phenotypic characterization, followed by genome-wide SNP genotyping and whole genome sequencing, was carried out in all available family members...
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| Publicat a: | Mov Disord |
|---|---|
| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5318269/ https://ncbi.nlm.nih.gov/pubmed/27753167 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.26824 |
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