Kiselev, Artem

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. [electronic resource] - Human mutation 09 2018 - 1161-1172 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.23559 doi


Adolescent
Cardiomyopathy, Restrictive--genetics
Child, Preschool
Congenital Abnormalities--genetics
DNA Mutational Analysis
Female
Filamins--genetics
Humans
Infant
Infant, Newborn
Male
Muscular Diseases--genetics
Mutation
Pedigree
Phenotype