A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
Abstract Dystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120). Both autosomal dominant and recessive inheritance has been reported with variable phenotype. We investigated a Pakistan...
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| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-02-01
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| Series: | BMC Medical Genomics |
| Online Access: | https://doi.org/10.1186/s12920-024-02077-1 |
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