Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

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 patien...

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Vydáno v:Hum Mol Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886110/
https://ncbi.nlm.nih.gov/pubmed/28973399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx351
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