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

• Ngā kaituhi matua: 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)
• Hōputu: Pukapuka
• I whakaputaina: Frontiers Media S.A., 2021-02-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

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...