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Article

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

Nature genetics - 1 May 1999

Kitao S, Shimamoto A, Goto M, Miller R W, Smithson W A, Lindor N M, Furuichi Y

Abstract excerpt

Rothmund-Thomson syndrome (RTS; also known as poikiloderma congenitale) is a rare, autosomal recessive genetic disorder characterized by abnormalities in skin and skeleton, juvenile cataracts, premature ageing and a predisposition to neoplasia. Cytogenetic studies indicate that cells from affected patients show genomic instability often associated with chromosomal rearrangements causing an acquired somatic...

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Source

Identifiers

PMID: 10319867
DOI: 10.1038/8788

Genes

RECQL4
BLM
RECQL
RECQL5
WRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.PMID 10319867Read ↗

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