Associated Papers
Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
Wen D et al.
The Journal of Investigative Dermatology, 2024
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
37979963 (PubMed )
Supplement: jmg-2023-109510supp001.pdf
Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat I et al.
Frontiers in Medicine, 2018
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
Kiritsi D et al.
Journal of Medical Genetics, 2011
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