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Pediatr Dermatol
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38456245
RESUMO
Two siblings presented with straw-colored, frizzy, and wiry hair. They had no associated abnormalities and no family history of abnormal hair. Trichoscopy showed the longitudinal groove in the hair shafts, characteristic of uncombable hair syndrome. Molecular genetic analysis revealed a new pathogenic variant (c.1374dup; p. Val459ArgfsTer15) in PADI3, not previously described.