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Article

[Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2024

Li Zongpeng, Liu Kai, Zhao Xiangyu, Li Lin

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child featuring facial dysmorphism and intellectual disabilities. METHODS: A child who was diagnosed at Linyi People's Hospital on January 5 2023 due to "mental retardation" was selected as the study subject. Peripheral blood samples of the child and his parents, in addition with an amniotic fluid sample from the his mother were collected for the extraction of genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38946365
DOI: 10.3760/cma.j.cn511374-20230530-00325

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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