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Mosaic disorders affecting pigmentation - part 2: how to make a genetic diagnosis.

The British journal of dermatology - 18 Nov 2025

Kinsler Veronica A

Abstract excerpt

Mosaic disorders affecting pigmentation are a large group of different, rare diseases that present with hypo- and/or hyperpigmented birthmarks. These can carry associated risks such as involvement of other organ systems, a predisposition to cancer and the possibility of transmission to future offspring as germline disease. This review draws on the clinical and genetic discoveries of the last decade to discuss how...

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PMID: 40709616
DOI: 10.1093/bjd/ljaf224

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