Genotype-phenotype correlation in Junctional Epidermolysis Bullosa: signposts to severity

This study evaluated genetic and clinical findings from a JEB cohort, investigating genotype-phenotype correlations through bioinformatic analyses and comparison with previously reported mutations.

Source: Journal of Investigative Dermatology - December 27, 2023 Category: Dermatology Authors: David Wen, Manrup Hunjan, Ajoy Bardhan, Natasha Harper, Malobi Ogboli, Linda Ozoemena, Lu Liu, Jo-David Fine, Iain Chapple, Dario L. Balacco, Adrian Heagerty Tags: Original Article Source Type: research