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Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.

Neurogenetics - 1 Jul 2024

Saima, Khan Amjad, Ali Sajid, Jiang Jiuhong, Miao Zhichao, Kamil Atif, Khan Shahid Niaz, Arold Stefan T

Abstract excerpt

Primary microcephaly is a rare neurogenic and genetically heterogeneous disorder characterized by significant brain size reduction that results in numerous neurodevelopmental disorders (NDD) problems, including mild to severe intellectual disability (ID), global developmental delay (GDD), seizures and other congenital malformations. This disorder can arise from a mutation in genes involved in various biological...

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PMID: 38795246
DOI: 10.1007/s10048-024-00759-7

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