Article
Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.
Archivos argentinos de pediatria - 1 Oct 2025
Dri Jimena, Dos Santos Eugenia, Fernández Adriana, Galdeano Florencia, Guillamondegui María J, Gatica Cristina
Abstract excerpt
Trichothiodystrophy is a rare neuroectodermal defect characterized by sparse and brittle hair, photosensitivity, intellectual disability, and short stature. With an incidence of 1.2 per million in Western countries, half of the reported cases have clinical and cellular photosensitivity associated with mutations in three subunits of the general transcription factor IIH complex, which is involved in transcription...
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