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[Analysis of TWNK variant in a family affected with Perrault syndrome].

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

Chen Zihui, Tang Shaohua, Li Huanzheng, Xu Xueqin, Lyu Jianxin

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of two patients with Perrault syndrome (PRLTS) in a family. METHODS: Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband. Suspected variants were validated by clinical data and results of Sanger sequencing. RESULTS: WES has identified two heterozygous variants of TWNK gene, namely c.1172G>A (p.Arg391His)...

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PMID: 32619254
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.009

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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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