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Article

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

Molecular medicine reports - 1 Jun 2017

Wu Pan-Feng, Jin Jie-Yuan, Li Jing-Jing, He Ji-Qiang, Fan Liang-Liang, Jin Min, Huang Hao, Xia Kun, Tang Ju-Yu, Xiang Rong

Abstract excerpt

Werner Syndrome (WS) is a rare, adult‑onset progeroid syndrome that is associated with multiple age‑associated complications and relatively short life expectancy. The characteristics of WS include a 'bird‑like' appearance, canities, cataracts and ulcerations around the ankles. In addition, certain patients develop hypogonadism with atrophic genitalia and infertility. The average life span of affected individuals...

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Source

Identifiers

PMID: 28440507
DOI: 10.3892/mmr.2017.6465

Genes

WRN

Provenance

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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