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
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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
Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?
Sign Up to like & getrecommendations! Published in 2024 at "International Medical Case Reports Journal"
DOI: 10.2147/imcrj.s354337
Abstract: Objective We report a case of Carmi Syndrome in a neonate. Aim To share our lessons in diagnosis of the case of Carmi Syndrome. Case Report Carmi Syndrome is an extremely rare autosomal recessive genetic… read more here.
Keywords: carmi syndrome; bart syndrome; syndrome carmi; case ... See more keywords