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Article

Werner syndrome and mutations of the WRN and LMNA genes in France.

Human mutation - 1 Jul 2006

Uhrhammer Nancy A, Lafarge Laurence, Dos Santos Laetitia, Domaszewska Anna, Lange Magdalena, Yang Yong, Aractingi Selim, Bessis Didier, Bignon Yves-Jean

Abstract excerpt

Werner syndrome (WS) is a pleiotropic disease of premature aging involving short stature, tight, atrophied, and/or ulcerated skin; a characteristic 'birdlike' facies and high, squeaky or hoarse voice; premature greying and thinning of the hair; and early onset cataracts. Additional common symptoms include diabetes mellitus, hypogonadism, osteoporosis, osteosclerosis of the digits, soft tissue calcification,...

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Source

Identifiers

PMID: 16786514
DOI: 10.1002/humu.9435

Genes

WRN
LMNA

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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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.Semantic proximity Read ↗

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