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Article

NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Feb 2022

Chen Shimeng, Deng Xiaolu, Xiong Juan, Chen Baiyu, He Fang, Yang Lifen, Yang Li, Peng Jing, Yin Fei

Abstract excerpt

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with...

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Identifiers

PMID: 35545418
DOI: 10.11817/j.issn.1672-7347.2022.210070
PMCID: PMC10930526

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