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Article

[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].

Annales de dermatologie et de venereologie - 1 Jan 2000

Durand F, Castorina P, Morant C, Delobel B, Barouk E, Modiano P

Abstract excerpt

BACKGROUND: We report a case of Rothmund-Thomson syndrome associated with a trisomy 8 mosaicism, and RECQ4 gene mutation. OBSERVATION: An 18-year-old man presented with a poikiloderma affecting photoexposed areas and the buttocks. This lesions appeared during the first year of life and was secondly associated with alopecia, sparse body hair, keratosis, and warts. He also had proportional short stature, thumb and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 12218919

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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