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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Bibliografiset tiedot
Julkaisussa:Ann Saudi Med
Päätekijät: Naseer, Muhammad Imran, Rasool, Mahmood, Sogaty, Sameera, Chaudhary, Rukhaa Adeel, Mansour, Haifa Mansour, Chaudhary, Adeel G., Abuzenadah, Adel M., Al-Qahtani, Mohammad H.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: King Faisal Specialist Hospital and Research Centre 2017
Aiheet:
Original Article
Linkit: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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