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A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family
BACKGROUND: Primary microcephaly (MCPH) is a rare developmental defect characterized by impaired cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically heterogeneous and more than 17 genes so far have been identified that are associated with this disease. OBJECTIVE:...
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| Publié dans: | Ann Saudi Med |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
King Faisal Specialist Hospital and Research Centre
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6150548/ https://ncbi.nlm.nih.gov/pubmed/28377545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5144/0256-4947.2017.148 |
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