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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Veröffentlicht in:Ann Saudi Med
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: King Faisal Specialist Hospital and Research Centre 2017
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Original Article
Online Zugang: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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