Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence
Clin Exp Dermatol
.
2016 Dec;41(8):953-954.
doi: 10.1111/ced.12932.
Authors
A Fityan
1
2
,
H Fassihi
2
,
R Sarkany
2
Affiliations
1
Dermatology Department, University Hospital, Southampton, UK.
2
St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, London, UK.
PMID:
27859603
DOI:
10.1111/ced.12932
No abstract available
Publication types
Case Reports
MeSH terms
Age of Onset
Child, Preschool
Humans
Male
Mutation*
Porphyria, Erythropoietic / genetics*
Promoter Regions, Genetic / genetics*
Uroporphyrinogen III Synthetase / genetics*
Substances
Uroporphyrinogen III Synthetase