Article
Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
PloS one - 1 Jan 2023
Gupta Divya, Jayashankar Charitha, Srinivas Manoj, Baraka Vishwanathan Gurudatta, Reddy Kristipati Raghavendra, Kubba Asha, Batrani Meenakshi, Hiremagalore Ravi
Abstract excerpt
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is due to variation in the COL7A1 gene. The clinical phenotype and severity depends on the type of variation and domain of the affected protein. OBJECTIVES: To characterize the spectrum of COL7A1 variations in a cohort of DEB patients from India, to correlate these findings with clinical phenotypes and to establish a genotype-phenotype correlation. METHODS: This...
Topics
- Humans
- Epidermolysis Bullosa Dystrophica
- Skin
- Phenotype
- Mutation, Missense
- Collagen
- Mutation
- Collagen Type VII