@article {Lor:2020:0736-8046:955,
title = "A novel pathogenic mutation in the COL7A1 gene resulting in mild autosomal dominant bullous dermolysis of the newborn",
journal = "Pediatric Dermatology",
parent_itemid = "infobike://bsc/pde",
publishercode ="bp",
year = "2020",
volume = "37",
number = "5",
publication date ="2020-09-01T00:00:00",
pages = "955-957",
itemtype = "ARTICLE",
issn = "0736-8046",
eissn = "1525-1470",
url = "https://www.ingentaconnect.com/content/bsc/pde/2020/00000037/00000005/art00051",
doi = "doi:10.1111/pde.14239",
keyword = "genetic diseases/mechanisms, epidermolysis bullosa",
author = "Lor, Michael and Liu, Michael and Kuklinski, Lawrence F. and Hogeling, Marcia",
abstract = "Bullous dermolysis of the newborn is a subtype of dystrophic epidermolysis bullosa that typically resolves within the first two years of life. We present a case of autosomal dominant bullous dermolysis of the newborn and report a novel pathogenic mutation. This case highlights that
collagen VII mutations may present clinically with a mild phenotype.",
}