Functional genotype-phenotype associations in recessive dystrophic epidermolysis bullosa.
Jodi Y SoJaron NazaroffVamsi K YenamandraEmily S GorellNicki HarrisShivali FulchandEdward EidJohn A DoloritoM Peter MarinkovichJean Y Tang
Published in: Journal of the American Academy of Dermatology (2024)
Functional genotype categories may stratify RDEB severity; high-impact variants correlated with worse clinical outcomes. Further validation in larger cohorts is needed.