Article
Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
The Journal of investigative dermatology - 1 Jun 2024
Wen David, Hunjan Manrup, Bardhan Ajoy, Harper Natasha, Ogboli Malobi, Ozoemena Linda, Liu Lu, Fine Jo-David, Chapple Iain, Balacco Dario L, Heagerty Adrian
Abstract excerpt
Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive genodermatosis with a broad spectrum of phenotypes. Current genotype-phenotype paradigms are insufficient to accurately predict JEB subtype and characteristics from genotype, particularly for splice site variants, which account for over a fifth of disease-causing variants in JEB. This study evaluated the genetic and clinical findings from a JEB...
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