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Article

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

European journal of human genetics : EJHG - 1 Nov 2014

Colombo Elisa Adele, Fontana Laura, Roversi Gaia, Negri Gloria, Castiglia Daniele, Paradisi Mauro, Zambruno Giovanna, Larizza Lidia

Abstract excerpt

Rothmund-Thomson syndrome is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental abnormalities and cancer predisposition. Mutations predicted to result in the loss of RECQL4 protein have been associated with osteosarcoma risk, but mutation(s)-phenotype correlations are better...

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Identifiers

PMID: 24518840
DOI: 10.1038/ejhg.2014.18
PMCID: PMC4200430

Genes

RECQL4

Variants

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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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