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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening
Authors:Juanliang Cai  Barbara K. Goodman  Ankita S. Patel  John B. Mulliken  Lionel Van Maldergem  George E. Hoganson  William A. Paznekas  Ziva Ben-Neriah  Ruth Sheffer  Michael L. Cunningham  Donna L. Daentl  Ethylin Wang Jabs
Affiliation:(1) Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA;(2) Departments of Medicine and Plastic Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA;(3) Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA;(4) Kleberg Cytogenetics Laboratory, Department of Molecular and Human Genetics, Baylor University, Houston, Texas, USA;(5) Craniofacial Centre, Division of Plastic Surgery, Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA;(6) Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gerpinnes, Loverval, Belgium;(7) Department of Pediatrics, University of Illinois, Chicago, Illinois, USA;(8) Medical Genetics Clinic, Hadassah Hospital, Jerusalem, Israel;(9) Genetic Counselling Clinic, Leumit Health Fund, Jerusalem, Israel;(10) Department of Pediatrics, Division of Genetics and Development, Children's Craniofacial Center, University of Washington, Seattle, Washington, USA;(11) Shriners' Hospitals for Children in Northern California, Sacramento, California, USA;(12) CMSC 1004, The Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21287-3914, USA
Abstract:
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