[Trichothiodystrophy: PIBIDS syndrome].
نویسندگان
چکیده
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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عنوان ژورنال:
- Actas dermo-sifiliograficas
دوره 98 3 شماره
صفحات -
تاریخ انتشار 2007