Article
[Trichothiodystrophy: PIBIDS syndrome].
Actas dermo-sifiliograficas - 1 Apr 2007
Jiménez-Puya R, Moreno-Giménez J C, Camacho-Martínez F, Ferrando-Barbera J, Grimalt R
Abstract excerpt
Trichothiodystrophy comprises a heterogeneous group of autosomal recessive entities. This fact gives rise to different interrelated neuroectodermal disorders. From a structural point of view these features are the result of the low tissue sulfur content. We report a case of trichothiodystrophy initially classified as Tay syndrome that based on clinical features, complementary exams as well as on the disease...
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