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A syndrome of microcephaly,short stature,polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
Authors:Gökhan Yigit  Dagmar Wieczorek  Nina Bögershausen  Filippo Beleggia  Claudia Möller‐Hartmann  Janine Altmüller  Holger Thiele  Peter Nürnberg  Bernd Wollnik
Affiliation:1. Institute of Human Genetics, University of Cologne, Cologne, Germany;2. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany;3. Cologne Excellence Cluster on Cellular Stress Responses in Aging‐Associated Diseases (CECAD), University of Cologne, Cologne, Germany;4. Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg‐Essen, Essen, Germany;5. Department of Neuroradiology, University Hospital Essen, University of Duisburg‐Essen, Essen, Germany;6. Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany;7. Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany;8. Correspondence to:;9. Bernd Wollnik, M.D., Institute of Human Genetics, University Medical Center Göttingen, Heinrich‐Düker‐Weg 12, 37073 Göttingen, Germany.;10. E‐mail:
Abstract:
Keywords:KATNB1  katanin  microcephalic primordial dwarfism  polydactyly  lissencephaly
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