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CDKN1C mutations: two sides of the same coin
Authors:Thomas Eggermann  Gerhard Binder  Frédéric Brioude  Eamonn R. Maher  Pablo Lapunzina  Maria Vittoria Cubellis  Ignacio Bergadá  Dirk Prawitt  Matthias Begemann
Affiliation:1. Institute of Human Genetics, University Hospital, Technical University Aachen, Aachen, Germany;2. University Children''s Hospital, Paediatric Endocrinology, University of Tübingen, Tübingen, Germany;3. AP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France;4. Department of Medical Genetics, University of Cambridge, Cambridge, UK;5. NIHR Cambridge Biomedical Research Centre, Cambridge, UK;6. INGEMM, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, IdiPAZ, CIBERER-ISCIII, Madrid, Spain;7. Dipartimento di Biologia, Università Federico II, Napoli, Italy;8. Centro de Investigaciones Endocrinológicas ‘Dr César Bergadá’ (CEDIE), CONICET–FEI–División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina;9. Molekulare Pädiatrie, Zentrum für Kinder- und Jugendmedizin, Universitätsmedizin Mainz, Mainz, Germany
Abstract:
Keywords:imprinting  IMAGE syndrome  Beckwith–Wiedemann syndrome  Silver–Russell syndrome  point mutations.
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