%0 Journal Article
%T Novel desmoplakin mutations in familial Carvajal syndrome
%A DANAT YERMAKOVICH
%A IRYNA MOTUK
%A LARYSA SIVITSKAYA
%A NINA DANILENKO
%A TATIYANA VAIKHANSKAYA
%J Archive of "Acta Myologica".
%D 2018
%X Desmoplakin is encoded by DSP gene, whose altered function leads to skin and hair abnormalities, and heart diseases. The whole triad of these traits characterizes the Carvajal syndrome (CS)
%K Carvajal syndrome
%K cardiocutaneous phenotype
%K desmoplakin mutations
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416697/