Two siblings with uncombable hair syndrome: A new pathogenic variant.

Autor: Calvo-Asín C; Department of Dermatology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain., Palencia-Pérez SI; Department of Dermatology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain., Quesada-Espinosa JF; Department of Dermatology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain., Puig-Buendia J; Department of Dermatology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain., Cavestany-Rodríguez R; Department of Dermatology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain., Velasco-Tamariz V; Department of Dermatology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2024 Sep-Oct; Vol. 41 (5), pp. 927-928. Date of Electronic Publication: 2024 Mar 08.
DOI: 10.1111/pde.15590
Abstrakt: 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.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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