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  • Title: [Trichothiodystrophy: PIBIDS syndrome].
    Author: Jiménez-Puya R, Moreno-Giménez JC, Camacho-Martínez F, Ferrando-Barbera J, Grimalt R.
    Journal: Actas Dermosifiliogr; 2007 Apr; 98(3):183-7. PubMed ID: 17504703.
    Abstract:
    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 evolution was labelled as PIBIDS syndrome.
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