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[Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2025

Zhang Mengyao, Zheng Ke, Shen Kangjie, Jian Xiaoqing, Liu Hongwei, Li Jianguo, Wang Jianbo

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a child with Chanarin-Dorfman syndrome (CDS) manifesting as ichthyosis. METHODS: A child who had presented at Henan Provincial People's Hospital in June 2023 was selected as study subject. Clinical data of the child was collected. Peripheral blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41811046
DOI: 10.3760/cma.j.cn511374-20250731-00470

Genes

ABHD5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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