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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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Détails bibliographiques
Publié dans:Ann Saudi Med
Auteurs principaux: 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
Langue:Inglês
Publié: King Faisal Specialist Hospital and Research Centre 2017
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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