ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype
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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