A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or aut...

Source: BMC Dermatology - January 31, 2019 Category: Dermatology Authors: E. G. Okuneva, A. A. Kozina, N. V. Baryshnikova, A. Yu Krasnenko, K. Yu Tsukanov, O. I. Klimchuk, E. I. Surkova and V. V. Ilinsky Tags: Case report Source Type: research