Two siblings with uncombable hair syndrome: A new pathogenic variant-Reference-Cited by-同舟云学术

Two siblings with uncombable hair syndrome: A new pathogenic variant

Published:2024-03-08 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Calvo‐Asín Carlos¹^ORCID,Palencia‐Pérez Sara I.¹,Quesada‐Espinosa Juan F.¹,Puig‐Buendia Jose¹,Cavestany‐Rodríguez Raquel¹,Velasco‐Tamariz Virginia¹^ORCID

Affiliation:

1. Department of Dermatology Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense Madrid Spain

Abstract

AbstractTwo 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.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15590

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