Autosomal dominant pseudoxanthoma elasticum.

نویسنده

  • F M Pope
چکیده

very severe choroidoretinitis, often complicated by blindness. Dominant type II PXE, on the other hand, is a much milder form of the disease, with a macular rash (though identical histological changes), no vascular changes, and a very mild retinal degeneration, which does not progress to either blindness or choroidoretinitis. Younger members of these families often have prominent choroidal vessels. Formal analysis of the two pedigrees and all the pooled genetic data supported the autosomal dominant transmission of both these traits.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 11 2  شماره 

صفحات  -

تاریخ انتشار 1974