Trichothiodystrophy
Definition:
References:
-
[1]. Arjan F Theil, et al. Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Am J Hum Genet. 2019 Aug 1;105(2):434-440. [Content Brief]
[2]. Christiane Kuschal, et al. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. Am J Hum Genet. 2016 Apr 7;98(4):627-42. [Content Brief]
[3]. Elena Botta, et al. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Hum Mol Genet. 2021 Aug 28;30(18):1711-1720. [Content Brief]
[4]. Giuseppina Giglia-Mari, et al. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet. 2004 Jul;36(7):714-9. [Content Brief]
[5]. Kazuhiko Nakabayashi, et al. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005 Mar;76(3):510-6. [Content Brief]
[6]. Mark A Corbett, et al. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. J Med Genet. 2015 Apr;52(4):269-74. [Content Brief]
Molarity Calculator
Dilution Calculator
