Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70067
Abstract: Trichothiodystrophy (TTD) is caused by homozygous or compound heterozygous variants in genes associated with DNA repair. The ERCC2 gene encoded a protein, XPD, that is a subunit of the general transcription factor TFIIH and important… read more here.
Keywords: trichothiodystrophy due; variants uncommon; due ercc2; ercc2 variants ... See more keywords
ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.16134
Abstract: Trichothiodystrophy (TTD) describes a group of rare genetic disorders of DNA repair, characterized by sulphur‐deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities and life‐threatening infections. read more here.
Keywords: siblings severe; mutations two; trichothiodystrophy; two siblings ... See more keywords
Dupilumab treatment of trichothiodystrophy in a child
Sign Up to like & getrecommendations! Published in 2024 at "Pediatric Dermatology"
DOI: 10.1111/pde.15612
Abstract: Trichothiodystrophy (TTD) is a rare congenital disorder caused by genetic mutations, leading to hair and skin abnormalities. We report successful treatment of a TTD case using dupilumab, a monoclonal antibody targeting IL‐4Rα. The patient, a… read more here.
Keywords: trichothiodystrophy child; treatment; dupilumab treatment; trichothiodystrophy ... See more keywords