ArticleDiagnostics (Basel, Switzerland)2022

Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

Alfred Klausegger et al.PubMed ↗Full text ↗Publisher ↗

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