This report extends the phenotype of a recently described cardiocutaneous syndrome associated with biallelic loss-of-function variants in PPP1R13L. Affected individuals develop severe dilated cardiomyopathy (DCM) leading to death or cardiac transplant in childhood, and cutaneous manifestations including wooly or wiry hair, wedged teeth, xerotic skin, dystrophic nails, cleft palate, and corneal abnormalities. 1,2
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.