A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review

Variegate Porphyria (VP) is an inherited rare disorder that is caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the body, which, in turn, can potentially result in a variety of skin and ne...

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Detalles Bibliográficos
Autores principales: Vafaee-Shahi, Mohammad, Ghasemi, Saeide, Riahi, Aina, Sadr, Zahra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842551/
https://www.ncbi.nlm.nih.gov/pubmed/35164799
http://dx.doi.org/10.1186/s13052-022-01215-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842551/
https://www.ncbi.nlm.nih.gov/pubmed/35164799
http://dx.doi.org/10.1186/s13052-022-01215-8

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