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Paper Details

Homozygous variegate porphyria presenting with developmental and language delay in childhood.
Clin Exp Dermatol
10
2013
Gly57Arg, HVP, Homozygous variegate porphyria, PPOX, PPOX coding region, Pro420Arg, Variegate porphyria, ataxia, autosomal dominant disorder, brachydactyly, c.1259C>G, c.169G, c.169G>C, child, developmental and language delay, developmental delay, epilepsy, homozygous variegate porphyria, hypomyelinating leucoencephalopathies, mental retardation, nystagmus, p.Gly57Arg, patient, photosensitivity, plasma, porphyrins, protoporphyrinogen, protoporphyrinogen oxidase gene, scarring, short stature, skin blisters

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Release 1.2