Bart’s Syndrome with Novel Frameshift Mutations in the COL7A1 Gene
Sign Up to like & getrecommendations! Published in 2019 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2018.1543370
Abstract: Abstract Introduction: Bart’s syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently. Case report: A full-term female neonate had well-demarcated absence of skin on… read more here.
Keywords: novel frameshift; bart syndrome; frameshift mutations; mutations col7a1 ... See more keywords
A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Case Reports in Dermatology"
DOI: 10.1159/000478889
Abstract: Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a… read more here.
Keywords: cutis congenita; aplasia cutis; case; bart syndrome ... See more keywords