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.
Müller et al. (Sat,) studied this question.
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