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Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.

BioMed research international - 1 Jan 2022

Khan Niaz Muhammad, Masoud Muhammad Shareef, Baig Shahid Mahmood, Qasim Muhammad, Chang Junlei

Abstract excerpt

Microcephaly (MCPH) is a developmental anomaly of the brain known by reduced cerebral cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a genetically and clinically heterogenous disorder. Twenty-five genes (involved in spindle positioning, Wnt signaling, centriole biogenesis, DNA repair, microtubule dynamics, cell cycle checkpoints, and transcriptional regulation)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35281599
DOI: 10.1155/2022/3769948
PMCID: PMC8913137

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