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Article

[Identification of a novel mutation of MBD5 gene in a pedigree affected with autosomal dominant mental retardation type 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2021

Yi Zhi, Zhang Ying, Yang Chengqing, Song Zhenfeng, Xue Jiao, Pan Hong, Zhu Haiyan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with mental and motor retardation, language impairment, facial dysmorphism and epilepsy. METHODS: Whole exome sequencing was carried out to detect pathogenic variant in the proband, and candidate variant was selected based on his phenotype. Sanger sequencing was used to verify the variant in the proband, his parents and other family members. RESULTS: The proband...

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Source

Identifiers

PMID: 33751537
DOI: 10.3760/cma.j.cn511374-20200206-00058

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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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