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

Author:

Falik‐Zaccai Tzipora C12ORCID,Barsheshet Yiftah2ORCID,Mandel Hanna34,Segev Meital2,Lorber Avraham45,Gelberg Shachaf2,Kalfon Limor1,Ben Haroush Shani1,Shalata Adel6ORCID,Gelernter‐Yaniv Liat7,Chaim Sarah1,Raviv Shay Dorith1,Khayat Morad8,Werbner Michal2,Levi Inbar1,Shoval Yishay1,Tal Galit34,Shalev Stavit48,Reuveni Eli2,Avitan‐Hersh Emily9,Vlodavsky Eugene410,Appl‐Sarid Liat11,Goldsher Dorit412,Bergman Reuven49,Segal Zvi213,Bitterman‐Deutsch Ora214,Avni Orly2ORCID

Affiliation:

1. Institute of Human Genetics Galilee Medical Center Nahariya Israel

2. Faculty of Medicine in the Galilee Bar‐Ilan University Safed Israel

3. Metabolic Disease Unit Rambam Health Care Campus Haifa Israel

4. Rappaport Faculty of Medicine Technion, Israel Institute of Technology Haifa Israel

5. Department of Pediatric Cardiology Rambam Health Care Campus Haifa Israel

6. The Winter Genetic Institute Bnei Zion Medical Center Haifa Israel

7. Pediatric Cardiology Clinic Bnei Zion Medical Center Haifa Israel

8. The Genetic Institute Ha'emek Medical Center Afula Israel

9. Department of Dermatology Rambam Health Care Campus Haifa Israel

10. Department of Pathology Rambam Health Care Campus Haifa Israel

11. Department of Pathology Galilee Medical Center Nahariya Israel

12. Department of Diagnostic Imaging Rambam Health Care Campus Haifa Israel

13. Department of Ophthalmology Galilee Medical Center Nahariya Israel

14. Dermatology Clinic Galilee Medical Center Nahariya Israel

Funder

Israel Science Foundation

Publisher

EMBO

Subject

Molecular Medicine

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