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Trichothiodystrophy photosensitive
- ... Testing Registry: Trichothiodystrophy 9, nonphotosensitive Genetic Testing Registry: Trichothiodystrophy 1, photosensitive Genetic Testing Registry: Trichothiodystrophy 2, photosensitive Genetic Testing ...
- ... than 20 percent of all cases of non-photosensitive trichothiodystrophy.All of the known MPLKIP gene variants prevent ... this protein leads to the characteristic features of trichothiodystrophy, which include slow growth, intellectual disability, and brittle ... Tests of MPLKIP ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. It is ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. Other features ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. Other features ...