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Article

[Clinical features and gene variant of a pedigree affected with X-linked recessive mental retardation Claes-Jensen type].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2020

Ding Ning, Zhang Pingping, Mao Yingying, Feng Shuo, Gao Zhijie, Chen Qian, Zhang Xue

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a pedigree affected with X-linked recessive mental retardation Claes-Jensen type. METHODS: Genomic DNA was extracted from peripheral blood samples of the patient, his parents (phenotypically normal) and two elder brothers with similar clinical manifestations. Whole exome sequencing was carried out for the proband, and the result was verified by Sanger sequencing....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 33306820
DOI: 10.3760/cma.j.cn511374-20191218-00643

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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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