Article
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
Human molecular genetics - 1 Dec 2017
Theil Arjan F, Mandemaker Imke K, van den Akker Emile, Swagemakers Sigrid M A, Raams Anja, Wüst Tatjana, Marteijn Jurgen A, Giltay Jacques C, Colombijn Richard M, Moog Ute, Kotzaeridou Urania, Ghazvini Mehrnaz, von Lindern Marieke, Hoeijmakers Jan H J, Jaspers Nicolaas G J, van der Spek Peter J, Vermeulen Wim
Abstract excerpt
The rare recessive developmental disorder Trichothiodystrophy (TTD) is characterized by brittle hair and nails. Patients also present a variable set of poorly explained additional clinical features, including ichthyosis, impaired intelligence, developmental delay and anemia. About half of TTD patients are photosensitive due to inherited defects in the DNA repair and transcription factor II H (TFIIH). The...
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