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[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].

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

Chen Jing, Hu Chunhui, Ren Lanfen, Li Jingjing, Lei Tao, Chen Shuang, Zhao Peiwei

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a child with Perlman syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing (WES) was carried out to detect potential variant in the proband. Candidate variant was verified by Sanger sequencing. The pathogenicity of candidate variants was evaluated according to...

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PMID: 34964966
DOI: 10.3760/cma.j.cn511374-20210305-00191

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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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