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

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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Bibliographic Details
Main Authors: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Osama Yousef Muthaffar, Sameera Sogaty, Hiba Alkhatabi, Sarah Almaghrabi, Adeel G. Chaudhary
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Pediatrics
Subjects:
ASPM
primary microcephaly
whole exom sequencing
Saudi population
MCPH
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2020.627122/full

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https://www.frontiersin.org/articles/10.3389/fped.2020.627122/full

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