首页 | 本学科首页   官方微博 | 高级检索  
   检索      


TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Authors:Yoshiro Suzuki  David Chitayat  Hirotake Sawada  Matthew A Deardorff  Heather M McLaughlin  Amber Begtrup  Kathryn Millar  Jennifer Harrington  Karen Chong  Maian Roifman  Katheryn Grand  Makoto Tominaga  Fumio Takada  Shirley Shuster  Megumi Obara  Hiroshi Mutoh  Reiko Kushima  Gen Nishimura
Institution:1. Division of Cell Signaling, Okazaki Institute for Integrative Bioscience (National Institute for Physiological Sciences), National Institutes of Natural Sciences, Okazaki 444-8787, Japan;2. Department of Physiological Sciences, SOKENDAI (The Graduate University for Advanced Studies), Okazaki 444-8787, Japan;3. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON M5G 1Z5, Canada;4. Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada;5. Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki 889-1692, Japan;6. Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;7. GeneDx, Gaithersburg, MD 20877, USA;8. Division of Endocrinology and Metabolism, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada;9. Department of Medical Genetics and Genomics, Graduate School of Medical Sciences, Kitasato University, Kanagawa 252-0375, Japan;10. Division of Genetics and Genomics, Center for Clinical Genetics and Genomics, Kitasato University Hospital, Kanagawa 252-0374, Japan;11. Department of Neonatology, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan;12. Department of Neonatology, Tokyo Metropolitan Bokutoh Hospital, Tokyo 130-8575, Japan;13. Intractable Disease Center, Saitama Medical University Hospital, Saitama 350-1298, Japan
Abstract:
Keywords:neonatal  transient  hyperparathyroidism  TRPV6  placenta  autosomal recessive  calcium  skeletal
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号