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- W4382919480 abstract "Piebaldism is the dominantly inherited skin disorder clinically characterized by congenital stable and well circumscribed patches of leukoderma (depigmented skin) of ventral distribution, involving central forehead, frontal chest and abdomen and central portion of limbs, and by localized poliosis (white hair). Inherited or de novo mutations in proto-oncogene KIT, encoding the transmembrane tyrosine kinase receptor c-kit, underly the majority of piebaldism cases. Piebaldism is a disorder characterized by incomplete penetrance and variable expressivity." @default.
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- W4382919480 date "2023-06-01" @default.
- W4382919480 modified "2023-09-26" @default.
- W4382919480 title "[MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES]." @default.
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