Article
Molecular characterization of homozygous variegate porphyria.
Human molecular genetics - 1 Nov 1998
Roberts A G, Puy H, Dailey T A, Morgan R R, Whatley S D, Dailey H A, Martasek P, Nordmann Y, Deybach J C, Elder G H
Abstract excerpt
Variegate porphyria (VP) is a low penetrance, autosomal dominant disorder that results from partial deficiency of protoporphyrinogen oxidase (PPOX) activity caused by mutation in the PPOX gene. The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand and, less constantly, short stature, mental...
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