Associated Papers
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
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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