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Article

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.

Orphanet journal of rare diseases - 8 Dec 2010

De Somer Lien, Wouters Carine, Morren Marie-Anne, De Vos Rita, Van Den Oord Joost, Devriendt Koenraad, Meyts Isabelle

Abstract excerpt

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a...

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Source

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Identifiers

PMID: 21143835
DOI: 10.1186/1750-1172-5-37
PMCID: PMC3009952

Genes

RECQL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21143835-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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