A second case of recessive mosaicism in ABCA12 causing a congenital unilateral epidermal nevus
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ID: 318977
2026
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Abstract
We report a patient with a congenital unilateral epidermal nevus caused by two novel pathogenic ABCA12 variants, one inherited and one postzygotically acquired. This represents a rare example of recessive mosaicism, previously described only once. Our case corroborates and extends current knowledge of this mechanism and highlights its relevance for diagnostics and genetic counselling.
| Reference Key |
openalex_W7166300445
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|---|---|
| Authors | Madeleine Müller, R. Salgo, Svenja Rademacher, Alrun Hotz, Judith Fischer |
| Journal | clinical and experimental dermatology |
| Year | 2026 |
| DOI |
10.1093/ced/llag273
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| URL | |
| Keywords | Keywords not found |
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