Title: Novel Variant c.7795-1G>A of COL7A1 Gene in
a 12-month-old Female Child with Recessive Dystrophic Epidermolysis
BullosaType of article: Case ReportAuthors: Francesca CAROPPO1,2, Fortunato
CASSALIA1, Anna BELLONI FORTINA1,2Affiliations:
Dermatology Unit, Department of Medicine (DIMED), University of Padua,
Padua, Italy.
Pediatric Dermatology Regional Center, Department of Women and
Children’s Health, University of Padua, Padua, Italy, ERN Skin, Italy
Corresponding Author:
Francesca Caroppo, MD
Unit of Dermatology, Department of Medicine
University of Padova, Italy
Via Vincenzo Gallucci 4, 35121, Padova, Italy
e-mail:francesca.caroppo@outlook.itKeywords: Dystrophic Epidermolysis Bullosa, DEB, Epidermolysis
Bullosa, EB, Congenital diseases, genetic diseases, mutation, rare skin
diseasesWord count: 664Tables: NoneFigure: 2References: 9Patient Consent Written informed consent was obtained from the
patient to publish this report in accordance with the journal’s patient
consent policy.Conflicts of interest: NoneAcknowledgements: NoneAuthor Contributions: All authors contributed to designing and
conducting the work, drafting, and revising the manuscript and approved
the final version for submission.