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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Publicat a:Ann Saudi Med
Autors principals: Naseer, Muhammad Imran, Rasool, Mahmood, Sogaty, Sameera, Chaudhary, Rukhaa Adeel, Mansour, Haifa Mansour, Chaudhary, Adeel G., Abuzenadah, Adel M., Al-Qahtani, Mohammad H.
Format: Artigo
Idioma:Inglês
Publicat: King Faisal Specialist Hospital and Research Centre 2017
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Original Article
Accés en línia: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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