Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

Arjan F Theil1, Imke K Mandemaker1, Emile van den Akker2

  • 1Department of Molecular Genetics, Cancer Genomics Netherlands, Erasmus MC, Rotterdam, The Netherlands.

Human Molecular Genetics
|October 4, 2017
PubMed
Summary

Trichothiodystrophy (TTD) is a rare disorder affecting hair and nails. A mutation in GTF2E2/TFIIEβ causes temperature-sensitive transcription defects, leading to specific TTD symptoms like anemia, independent of DNA repair.

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