Two siblings with uncombable hair syndrome: A new pathogenic variant.
Pediatr Dermatol
; 2024 Mar 08.
Article
in En
| MEDLINE
| ID: mdl-38456245
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Pediatr Dermatol
Year:
2024
Document type:
Article
Affiliation country:
España