Article
New clinico-genetic classification of trichothiodystrophy.
American journal of medical genetics. Part A - 1 Sept 2009
Morice-Picard Fanny, Cario-André Muriel, Rezvani Hamid, Lacombe Didier, Sarasin Alain, Taïeb Alain
Abstract excerpt
Trichothiodystrophy (TTD) is a congenital hair dysplasia with autosomal recessive transmission. Cross banding pattern under polarized light plus trichoschisis and a low sulfur content of hair shafts define the disorder, which is associated with variable and neuroectodermal symptoms. So-called photosensitive forms of TTD (with low level of in vitro UV-induced DNA repair, not constantly associated with marked...
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