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[Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2022

Zhang Chuan, Hao Shengjun, Hui Ling, Feng Xuan, Chen Xue, Wang Xing, Zheng Lei, Liu Furong, Zhou Bingbo, Zhang Qinghua

Abstract excerpt

OBJECTIVE: To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD). METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes. RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene....

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PMID: 35929940
DOI: 10.3760/cma.j.cn511374-20210025-00163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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