Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

EMBO Molecular Medicine

Emily Avitan‐Hersh¹  Liat Appl‐Sarid²  Orly Avni³  Yiftah Barsheshet³  Michal Werbner³  Meital Segev³  Shachaf Gelberg³  Eli Reuveni³  Zvi Segal⁴  Ora Bitterman‐Deutsch⁵  Limor Kalfon⁶  Sarah Chaim⁶  Shani Ben Haroush⁶  Yishay Shoval⁶  Inbar Levi⁶  Dorith Raviv Shay⁶  Tzipora C Falik‐Zaccai⁷  Hanna Mandel⁸  Galit Tal⁸  Liat Gelernter‐Yaniv⁹  Reuven Bergman^1,10  Dorit Goldsher^1,11  Eugene Vlodavsky^1,12  Avraham Lorber^1,13  Stavit Shalev^1,14  Morad Khayat^1,15  Adel Shalata^1,16 

[1] Department of Dermatology, Rambam Health Care Campus, Haifa, Israel;Department of Pathology, Galilee Medical Center, Nahariya, Israel;Faculty of Medicine in the Galilee, Bar‐Ilan University, Safed, Israel;Faculty of Medicine in the Galilee, Bar‐Ilan University, Safed, Israel;Department of Ophthalmology, Galilee Medical Center, Nahariya, Israel;Faculty of Medicine in the Galilee, Bar‐Ilan University, Safed, Israel;Dermatology Clinic, Galilee Medical Center, Nahariya, Israel;Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel;Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel;Faculty of Medicine in the Galilee, Bar‐Ilan University, Safed, Israel;Metabolic Disease Unit, Rambam Health Care Campus, Haifa, Israel;Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel;Pediatric Cardiology Clinic, Bnei Zion Medical Center, Haifa, Israel;Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel;Department of Dermatology, Rambam Health Care Campus, Haifa, Israel;Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel;Department of Diagnostic Imaging, Rambam Health Care Campus, Haifa, Israel;Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel;Department of Pathology, Rambam Health Care Campus, Haifa, Israel;Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel;Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa, Israel;Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel;The Genetic Institute, Ha'emek Medical Center, Afula, Israel;The Genetic Institute, Ha'emek Medical Center, Afula, Israel;The Winter Genetic Institute, Bnei Zion Medical Center, Haifa, Israel;

关键词: dilated cardiomyopathy;    genetics;    inflammation;    myocarditis;    PPP;   

DOI  :  10.15252/emmm.201606523

来源: Wiley

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CC BY