Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families
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DOI: 10.1155/2022/3769948
Abstract: 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… read more here.
Keywords: microcephaly mcph; cenpj cask; identification pathogenic; primary microcephaly ... See more keywords