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Article

Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.

The British journal of dermatology - 18 Feb 2026

Yang Yifan, Zhang Jingwen, Zhou Shengru, Chen Qicai, Wang Yihe, Meng Yuan, Gu Yuyang, Ji Zijing, Zhang Xiaohui, Zhang Xuejun, Li Min

Abstract excerpt

BACKGROUND: Porokeratosis is a rare, genetically heterogeneous group of dyskeratotic dermatoses with an incompletely understood pathogenesis. Accumulating evidence shows that pathogenic variants in mevalonate pathway-related genes play a central role in the aetiology of the disease. Previous studies have established partial genotype-phenotype correlations, although the biological mechanisms underlying these...

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Identifiers

PMID: 41240373
DOI: 10.1093/bjd/ljaf461

Genes

MVD
MVK
PMVK
FDPS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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