ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy
Mark T. Handley, Kaalak Reddy, Jimi C. Wills, Elisabeth M. Rosser, Archith Kamath, Mihail R. Halachev, Gavin Falkous, Denise Williams, Phillip M. Cox, Alison M. Meynert, Eleanor S. Raymond, Harris Morrison, S.D.M. Brown, Emma Allan, Irene A. Aligianis, , David R FitzPatrick
This paper identifies ITPA mutations causing a lethal infantile dilated cardiomyopathy with Martsolf syndrome features and describes the molecular consequences of ITPase deficiency.
PLoS Genetics · Mar 11, 2019Peer-reviewedGenetics