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Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog
Authors:Andreas Hahn  Jessica Lauriol  Josef Thul  Kachina Behnke‐Hall  Tushiha Logeswaran  Anne Schänzer  Nuray Böğürcü  Boyan K. Garvalov  Martin Zenker  Bruce D. Gelb  Susanne von Gerlach  Reinhard Kandolf  Maria I. Kontaridis  Dietmar Schranz
Affiliation:1. Department of Child Neurology, University Hospital Giessen, Justus‐Liebig University, Giessen, Germany;2. Department of Medicine, Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts;3. Pediatric Heart Center, University Hospital, Justus‐Liebig University, Giessen, Germany;4. Institute of Neuropathology, University Hospital, Justus‐Liebig University, Giessen, Germany;5. Institute of Human Genetics, University Hospital Magdeburg, Otto‐von‐Guericke University, Magdeburg, Germany;6. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York;7. Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York;8. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York;9. Institute of Pathology and Cytology, Wettenberg, Germany and Institute of Pathology, University Hospital, Justus‐Liebig University, Giessen, Germany;10. Department of Molecular Pathology, Institute for Pathology and Neuropathology, University Hospital, Eberhard‐Karls University, Tübingen, Germany;11. Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts
Abstract:
Keywords:Noonan syndrome with multiple lentigines  NSML  PTPN11  mTOR  hypertrophic cardiomyopathy  RASopathy
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