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  3. Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.

Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.

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Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Pozuelo-Ruiz M
  • Marco-Hernández AV

Grupos

Abstract

Trichothiodystrophy exhibits a broad clinical spectrum, and cases with an uncommon phenotype can go unnoticed, complicating the diagnosis. We present the second case of type 9 non-photosensitive trichothiodystrophy caused by a homozygous variant in the MARS1 gene. It presented with atypical features, including long hair, normal hair density of eyebrows and eyelashes, and precocious puberty.

© 2025 Wiley Periodicals LLC.

Datos de la publicación

ISSN/ISSNe:
0736-8046, 1525-1470

PEDIATRIC DERMATOLOGY  WILEY

Tipo:
Article
Páginas:
209-210
PubMed:
40820264
Enlace a otro recurso:
www.scopus.com
Factor de Impacto:
0,689 SCImago ℠
Cuartil:
Q2 SCImago ℠

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Keywords

  • MARS1 gene; hair diseases; non-photosensitive trichothiodystrophy; trichothiodystrophy syndromes

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