Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina
Trichothiodystrophy: Unveiling the Mysteries Trichothiodystrophy (TTD) is a rare genetic disorder that affects about 1.2 per million individuals in Western countries. Characterized by brittle hair, intellectual disability, and growth issues, this neuroectodermal disorder poses significant challenges for both patients and their families. A deeper understanding of TTD, especially through cases involving mutations in the GTF2H5 … Read more