A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2005.06978.x/fullpdf
Reference19 articles.
1. Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from Chile;Frank;Hum Hered,2001
2. Molecular characterization of homozygous variegate porphyria;Roberts;Hum Mol Genet,1998
3. Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene;Palmer;Br J Dermatol,2001
4. Homozygous variegate porphyria;Korda;Lancet,1984
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2. Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria;Clinica Chimica Acta;2021-01
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4. Inherited Porphyrias;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021
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