Trichothiodystrophy (TTD) is a rare, autosomal recessive disease due to mutations of DNA repair genes such as ERCC3 (XPB), ERCC2 (XPD), or GTF2H5 (TTDA) in photosensitive phenotypes; nonphotosensitive patients may have mutations in GTF2E2 or C7orF11 and the ring finger protein RNF113A.(1) Trichothiodystrophy has an estimated incidence of approximat
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