Results 1 -
5
of
5
for
Trichothiodystrophy "1," photosensitive
- ... Testing Registry: Trichothiodystrophy 9, nonphotosensitive Genetic Testing Registry: Trichothiodystrophy 1, photosensitive Genetic Testing Registry: Trichothiodystrophy 2, photosensitive Genetic Testing ...
- ... this protein leads to the characteristic features of trichothiodystrophy, which include slow growth, intellectual disability, and brittle hair. More ... Tests of MPLKIP PubMed ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. Other features ... repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy ... patients. DNA Repair (Amst). 2008 Dec 1;7(12):1990-8. doi: 10.1016/j. ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. It is ... Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and ... Epub 2007 Feb 1. Citation on PubMed or Free article on PubMed ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. Other features ... 1):90-6. doi: 10.4161/cc.9.1.10267. Epub 2010 Jan 5. Citation on PubMed ... syndrome or trichothiodystrophy cellular phenotypes. Hum Mol Genet. 1999 Jun;8( ...