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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene,cause short‐rib polydactyly type I,Saldino–Noonan type
Authors:N Badiner  SP Taylor  K Forlenza  R S Lachman  M Bamshad  D Nickerson  D H Cohn  D Krakow
Institution:1. David Geffen School of Medicine at UCLA, Los Angeles, CA, USA;2. Department of Human Genetics, Los Angeles, CA, USA;3. Department of Orthopaedic Surgery, Los Angeles, CA, USA;4. International Skeletal Dysplasia Registry at UCLA, Los Angeles, CA, USA;5. University of Washington Center for Mendelian Genomics, Seattle, WA, USA;6. Department of Genome Sciences, Seattle, WA, USA;7. Department of Pediatrics, University of Washington, Seattle, WA, USA;8. Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA;9. Department of Developmental Cell and Molecular Biology, University of California at Los Angeles, Los Angeles, CA, USA;10. Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Abstract:
Keywords:DYNC2H1  dynein cytoplasmic 2 heavy chain 1  IFT‐A  intraflagellar transport A  Saldino–  Noonan syndrome  short rib polydactyly syndrome  short rib polydactyly syndrome type I
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