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[Analysis of ADAR gene variant in a Chinese pedigree affected with dyschromatosis symmetrica hereditaria].

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

Wang Changyin, Xia Siman, Cui Zhengjun, Liu Xinjian, Qian Kun, Li Qian, Zong Xin

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genetic basis for a Chinese pedigree affected with hereditary dyschromatosis symmetrica hereditaria (DSH). METHODS: Peripheral blood samples of the proband and his mother were collected and subjected to PCR and Sanger sequencing. RESULTS: The patient has conformed to the typical pattern of DSH and manifested with hyperpigmentation, hypo- and hyperpigmentation spots...

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Identifiers

PMID: 35076920
DOI: 10.3760/cma.j.cn511374-20201119-00815

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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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