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Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk.
Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG. Kleijer WJ, et al. Prenat Diagn. 2007 Dec;27(12):1133-7. doi: 10.1002/pd.1849. Prenat Diagn. 2007. PMID: 17880036
OBJECTIVE: Evaluation of results in a consecutive series of 76 prenatal diagnoses for xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) made since 1977. METHODS: UV-induced DNA repair synthesis was assessed by the autoradiographic measurement of the incorporation of …
OBJECTIVE: Evaluation of results in a consecutive series of 76 prenatal diagnoses for xeroderma pigmentosum (XP) and trichothiodystrophy …
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. Botta E, et al. Hum Mutat. 2007 Jan;28(1):92-6. doi: 10.1002/humu.20419. Hum Mutat. 2007. PMID: 16977596
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder whose defining feature is brittle hair. ...Mutations in TTDN1 do not affect the response to ultraviolet (UV) light or the steady state level of the repair/transcription factor IIH (TFIIH), which is central to …
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder whose defining feature is brittle hair. ...Mutations in TTDN1 do not …
Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.
Kobayashi T, Uchiyama M, Fukuro S, Tanaka K. Kobayashi T, et al. Am J Med Genet. 2002 Jul 1;110(3):248-52. doi: 10.1002/ajmg.10465. Am J Med Genet. 2002. PMID: 12116233
Mutations in the XPD gene (XPD) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Cockayne syndrome. XPD protein is required for both nucleotide excision repair (NER) and basal transcription. ...
Mutations in the XPD gene (XPD) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Co …