Second Case of Type 9 Non‐Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the <i>MARS1</i> Gene
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.
Authors
- Mónica Pozuelo‐Ruiz
- Ana Victoria Marco Hernández (ORCID: https://orcid.org/0000-0002-6027-376X)
- Montserrat Évole‐Buselli
- Miguel Antonio Lasheras‐Pérez (ORCID: https://orcid.org/0000-0001-7429-9592)
- Francisco Martı́nez (ORCID: https://orcid.org/0000-0002-0589-2584)
Institutions
- Hospital Universitari i Politècnic La Fe (ES)
- Ayuntamiento de Castellón de la Plana (ES)
- Leitat Technological Center (ES)
- Hospital General Universitari de Castelló (ES)
- Hospital Universitario Doctor Peset (ES)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-08-17
- DOI
- https://doi.org/10.1111/pde.70015
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00