Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy
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DOI: 10.1002/mgg3.70067
Abstract: Trichothiodystrophy (TTD) is caused by homozygous or compound heterozygous variants in genes associated with DNA repair. The ERCC2 gene encoded a protein, XPD, that is a subunit of the general transcription factor TFIIH and important… read more here.
Keywords: trichothiodystrophy due; variants uncommon; due ercc2; ercc2 variants ... See more keywords