Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Carlos R FerreiraMary E HackbarthShira G ZieglerKristen S PanMary S RobertsDouglas R RosingMargaret S WhelpleyJoy C BryantEllen F MacnamaraSisi WangKerstin MüllerIris R HartleyEmily Y ChewTimothy E CordenChristina M JacobsenIngrid A HolmFrank RutschEsra DikogluMarcus Y ChenM Zulf MughalMichael A LevineRachel I GafniWilliam A GahlPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
GACI appears to be more common than previously thought, with an expanding spectrum of overlapping phenotypes. The relationships among decreased ENPP1, increased iFGF23, and rickets could inform future therapies.