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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Muthaffar, Osama Yousef, Sogaty, Sameera, Alkhatabi, Hiba, Almaghrabi, Sarah, Chaudhary, Adeel G.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7904689/
https://ncbi.nlm.nih.gov/pubmed/33643967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.627122
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