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:...

Descripción completa

Detalles Bibliográficos
Autores principales: Naseer, Muhammad Imran, Rasool, Mahmood, Sogaty, Sameera, Chaudhary, Rukhaa Adeel, Mansour, Haifa Mansour, Chaudhary, Adeel G., Abuzenadah, Adel M., Al-Qahtani, Mohammad H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150548/
https://www.ncbi.nlm.nih.gov/pubmed/28377545
http://dx.doi.org/10.5144/0256-4947.2017.148

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150548/
https://www.ncbi.nlm.nih.gov/pubmed/28377545
http://dx.doi.org/10.5144/0256-4947.2017.148

Ejemplares similares