Sequence variation in PPP 1R13L results in a novel form of cardio‐cutaneous syndrome

5 Arab Christian infants, aged 4-30 months from four families, with dilated cardiomyopathy (DCM) and mild skin, teeth, and hair abnormalities, along with patient fibroblasts, PPP1R13L-knocked down human fibroblasts, Ppp1r13l-knocked down murine cardiomyocytes, and Ppp1r13l-deficient mice.

Identification of the genetic mutation underlying the cardio-cutaneous syndrome and characterization of the inflammatory response in in vitro and in vivo models.surrogate