Trichothiodystrophy (TTD) is a rare, autosomal recessive neurodevelopmental disorder most commonly caused by mutations in ERCC2 (XPD), a gene that encodes a subunit of the transcription/repair factor IIH (TFIIH). Here, we describe two TTD cases in which detailed biochemical and molecular investigati
✦ LIBER ✦
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship
✍ Scribed by Pehlivan, Davut; Cefle, Kivanc; Raams, Anja; Ozturk, Sukru; Baykal, Can; Kleijer, Wim J.; Palanduz, Sukru; Jaspers, Nicolaas G. J.
- Book ID
- 119833285
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- French
- Weight
- 451 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0385-2407
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Genotype–phenotype relationships in tric
✍
Elena Botta; Tiziana Nardo; Donata Orioli; Roberta Guglielmino; Roberta Ricotti;
📂
Article
📅
2008
🏛
John Wiley and Sons
🌐
English
⚖ 333 KB
Clinical characteristics and phenotype-g
✍
Demirbilek, H.; Arya, V. B.; Ozbek, M. N.; Akinci, A.; Dogan, M.; Demirel, F.; H
📂
Article
📅
2014
🏛
Bioscientifica
🌐
English
⚖ 136 KB
A novel homozygous ERCC5 truncating muta
✍
Drury, Suzanne; Boustred, Christopher; Tekman, Mehmet; Stanescu, Horia; Kleta, R
📂
Article
📅
2014
🏛
John Wiley and Sons
🌐
English
⚖ 137 KB
Multiple, diffuse schwannomas in a RASop
✍
DR Bertola; AC Pereira; AS Brasil; L Suzuki; C Leite; R Falzoni; U Tannuri; AB P
📂
Article
📅
2011
🏛
John Wiley and Sons
🌐
English
⚖ 646 KB
Homozygous mutation (A228T) in the 5?-re
✍
Nordenskj�ld, Agneta; Magnus, �ystein; Aagen�s, �ystein; Knudtzon, J�rgen
📂
Article
📅
1998
🏛
John Wiley and Sons
🌐
English
⚖ 22 KB
👁 1 views
The molecular basis of a patient with 5␣reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity early in life. The diagnosis was set at the age of 1
Electroclinical presentation and genotyp
✍
Canafoglia, Laura; Gennaro, Elena; Capovilla, Giuseppe; Gobbi, Giuseppe; Boni, A
📂
Article
📅
2012
🏛
Wiley (Blackwell Publishing)
🌐
English
⚖ 592 KB