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Article

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.

Ageing research reviews - 1 Jan 2017

Lu Linchao, Jin Weidong, Wang Lisa L

Abstract excerpt

Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease which manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for patients carrying RECQL4 germline mutations. Mutations in RECQL4 are responsible for the majority of cases of RTS. RECQL4 belongs to RECQ DNA helicase...

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Source

Identifiers

PMID: 27287744
DOI: 10.1016/j.arr.2016.06.002

Genes

RECQL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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