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[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018

Tang Shaohua, Jia Manli, Chen Chong, Li Huanzheng, Hu Lin, Luan Zhaotang, Xu Xueqin, Lyu Jianxin

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic mutation in a family affected with non-syndrome X-linked intellectual disability (NS-XLID) using whole exome sequencing (WES). METHODS: Multiplex ligation-dependent probe amplification (MLPA) was applied to screen potential mutations of Fragile X syndrome (FXS). Whole exome sequencing (WES) and Sanger sequencing were screen for pathological mutations....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29896742
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.022

Genes

ARX

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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