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Article

The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome.

Endocrine - 1 Apr 2024

Wu Jushuang, Pan Shuyao, Lin Wei, Wen Junping, Lu Rongmei, Chen Gang

Abstract excerpt

PURPOSE: Werner syndrome (WS) is a rare autosomal recessive genetic disease caused by mutations in the WRN gene, and it is characterized by multiple manifestations corresponding to early-onset aging. This study reports the case of a WS patient with a novel WRN mutation. PATIENT AND METHODS: A 36-year-old male patient with WS was evaluated after approval from the local ethics committee. The clinical and...

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Source

Identifiers

PMID: 37856055
DOI: 10.1007/s12020-023-03565-7

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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