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Coproporphyria, digenic

MedGen UID:
865718
•Concept ID:
C4017281
•
Finding
Synonym: COPROPORPHYRIA, DIGENIC
 
OMIM®: 612732

Recent clinical studies

Diagnosis

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.
van Tuyll van Serooskerken AM, de Rooij FW, Edixhoven A, Bladergroen RS, Baron JM, Joussen S, Merk HF, Steijlen PM, Poblete-Gutiérrez P, te Velde K, Wilson JH, Koole RH, van Geel M, Frank J
J Invest Dermatol 2011 Nov;131(11):2249-54. Epub 2011 Jul 7 doi: 10.1038/jid.2011.186. PMID: 21734717

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    • ClinVar
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    • OMIM
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