A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.
E G OkunevaA A KozinaN V BaryshnikovaA Yu KrasnenkoK Yu TsukanovO I KlimchukE I SurkovaV V Ilinsky
Published in: BMC dermatology (2019)
Our results show a novel frameshift mutation that was found in patients with cutis laxa. Exome sequencing is effective and useful technology for properly diagnosis of diseases with similar phenotype to ensure proper treatment is provided.