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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Main Authors: Muhammad Imran Naseer (Author), Angham Abdulrahman Abdulkareem (Author), Osama Yousef Muthaffar (Author), Sameera Sogaty (Author), Hiba Alkhatabi (Author), Sarah Almaghrabi (Author), Adeel G. Chaudhary (Author)
Format: Book
Published: Frontiers Media S.A., 2021-02-01T00:00:00Z.
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3rd Floor Main Library

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