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Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis
Authors:K. Nicole Weaver  Moussa El Hallek  Robert J. Hopkin  Kristen L. Sund  Michael Henrickson  Daniela del Gaudio  Adnan Yuksel  Gül Ozbilen Acar  Michael B. Bober  Jinoh Kim  Simeon A. Boyadjiev
Affiliation:1. Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;2. Department of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;3. Department of Human Genetics, University of Chicago, Chicago, Illinois;4. Department of Genetics, Istanbul University, Cerrahpasa School of Medicine, Istanbul, Turkey;5. Department of Otorhinolaryngology, Istanbul Medeniyet University, Goztepe Research and Training Hospital, Istanbul, Turkey;6. Department of Pediatrics, Division of Genetics, AI Dupont Hospital for Children, Wilmington, Delaware;7. Department of Pediatrics, Section of Genetics, University of California, Davis, Sacramento, California
Abstract:
Keywords:Keutel  MGP  ARSE  chondrodysplasia punctata  relapsing polychondritis
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