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A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing
Authors:Rüstem Yilmaz  Ana Beleza‐Meireles  Susan Price  Renata Oliveira  Christian Kubisch  Jill Clayton‐Smith  Katalin Szakszon  Guntram Borck
Affiliation:1. Institute of Human Genetics, University of Ulm, Ulm, Germany;2. International Graduate School in Molecular Medicine Ulm, University of Ulm, Ulm, Germany;3. Medical Genetics Department, Hospital Pedi, á, trico, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal;4. Department of Clinical Genetics, Guy's Hospital, London, UK;5. Department of Clinical Genetics, Northampton General Hospital, NHS Trust, Northampton, UK;6. Institute of Human Genetics, University Medical Center Hamburg‐Eppendorf, Hamburg, Germany;7. Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK;8. Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary
Abstract:
Keywords:Say‐Barber‐Biesecker syndrome  Young‐Simpson syndrome  Ohdo syndrome  KAT6B  recurrent mutation
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