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Article

New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG - 1 Feb 2010

Scholz Ina M, Nümann Astrid, Froster Ursula G, Helmbold Peter, Enk Alexander H, Näher Helmut

Abstract excerpt

Brooke-Spiegler syndrome is a rare, autosomal dominant disease characterized by multiple skin appendage tumors caused by various mutations in the CYLD gene on chromosome 16q12-q13. We describe a family, in which we performed a molecular-genetic examination and found a new mutation in exon 19 in t...

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Share to Chromosomes, Human, Pair 16
Share to Carcinoma, Adenoid Cystic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Neoplasms, Multiple Primary

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Source

Identifiers

PMID: 20151946
DOI: 10.1111/j.1610-0387.2009.07156_supp.x

Genes

CYLD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20151946-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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