2022
DOI: 10.1002/ajmg.a.62951
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Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas

Abstract: Basaloid follicular hamartomas (BFH) are benign small basaloid skin tumors that can present as solitary or multiple lesions. Congenital BFH lesions arranged in a segmental distribution have been described, suggesting they derive from a somatic postzygotic mutational event. Previously, BFH were described in Happle-Tinschert syndrome, which results from a post-zygotic SMO variant and is characterized by seg-

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