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

• প্রধান লেখক: Mohammad Vafaee-Shahi (লেখক), Saeide Ghasemi (লেখক), Aina Riahi (লেখক), Zahra Sadr (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2022-02-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Abstract 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 sk...