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Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications
Authors:Sarah E. Grams  Bob Argiropoulos  Matthew Lines  Pranesh Chakraborty  Jean Mcgowan‐Jordan  Michael T. Geraghty  Marilyn Tsang  Marthand Eswara  Kamer Tezcan  Kelly L. Adams  Leesa Linck  Patricia Himes  Dana Kostiner  Dina J. Zand  Heather Stalker  Daniel J. Driscoll  Taosheng Huang  Jill A. Rosenfeld  Xu Li  Emily Chen
Affiliation:1. Department of Medical Genetics, Kaiser Permanente, San Francisco, California;2. Correspondence to: Sarah Grams, Department of Genetics, Kaiser Permanente, 2350 Geary Blvd, 3rd floor, San Francisco, CA 94115.;3. E‐mail:;4. Alberta Children's Hospital Research Institute for Child and Maternal Health, Alberta, Canada;5. Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada;6. Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada;7. Department of Genetics, Sutter Memorial Hospital, Sacramento, California;8. Department of Genetics, Kaiser Permanente, Sacramento, California;9. Department of Medical Genetics, Kaiser Permanente, Portland, Oregon;10. Department of Medical Genetics, Children's National Medical Center, Washington DC;11. Department of Genetics, University of Florida, Gainesville, Florida;12. Department of Human Genetics, Children's Hospital of Orange County, Orange, California;13. Signature Genomic Laboratories, Perkin Elmer, Inc., Spokane, Washington;14. Department of Genetics, Kaiser Permanente, San Jose, California
Abstract:
Keywords:Xp11.22 duplication  intellectual disability  comparative genomic hybridization  SHROOM4  DGKK  HUWE1
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