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Trichothiodystrophy

   Also found in: Acronyms, Wikipedia 0.01 sec.
trichothiodystrophy /tricho·thio·dys·tro·phy/ (-thi″o-dis´trah-fe) sparse, brittle hair with an unusually low sulfur content and a banded appearance under polarized light, often accompanied by short stature and mental retardation.
trich·o·thi·o·dys·tro·phy (trk-th-dstr-f)
n.
An abnormality of the hair shaft, probably inherited, characterized by fine brittle hairs with abnormally low sulfur content.

Brittle Hair Syndrome
A condition characterised by brittle, sulfur-poor hair, mental and physical retardation, onychodystrophy, ichthyotic skin, caused by an inherited defect in the ‘excision repair’ pathway


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One of the proteins identified by Ranish in yeast appeared to be a likely candidate for the gene product that was defective in this form of Trichothiodystrophy.
 
 
 
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