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Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so far in humans. The ASPM (abnormal spindle-like, mi...

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Detalles Bibliográficos
Autores principales:	Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Muthaffar, Osama Yousef, Sogaty, Sameera, Alkhatabi, Hiba, Almaghrabi, Sarah, Chaudhary, Adeel G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7904689/ https://www.ncbi.nlm.nih.gov/pubmed/33643967 http://dx.doi.org/10.3389/fped.2020.627122

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