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 Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Dermatology"
DOI: 10.5021/ad.2022.34.1.81
Abstract: Dear Editor: Pretibial epidermolysis bullosa (PEB) was first described by Kuske in 1946. The author reported two cases of PEB with recurrent blisters in a middle-aged man and his son. PEB is a rare subtype… read more here.
Keywords: col7a1 gene; epidermolysis bullosa; mutations col7a1;