Article
The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene.
Acta dermatovenerologica Croatica : ADC - 1 Jun 2018
Veres Klara, Nagy Nikoletta, Háromszéki Béla, Solymosi Ágnes, Vass Viktoria, Széll Márta, Szalai Zsuzsanna Zsófia
Abstract excerpt
Trichothiodystrophy, also called sulphur-deficient brittle hair syndrome, is a rare autosomal recessive genetic disorder of DNA repair and transcription. Trichothiodysthrophy is characterised by dry, thin, easily broken hair, showing alternating light and dark pattern called 'tiger tail' banding under polarizing light microscopy. According to our knowledge, our report is the first one on this rare disorder from...
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