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The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization
Authors:Jennifer N Sanmann  Kari A Casas  Jen Bevilacqua  Danielle L Bishay  Tanner Clark  A Zephyr Van Dyke  Patricia Crotwell Leiferman  Honey V Reddi  Lois J Starr
Institution:1. Human Genetics Laboratory, University of Nebraska Medical Center, Munroe‐Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska;2. Sanford Health, Medical Genetics, Fargo, North Dakota;3. Transgenomic, Inc., New Haven, Connecticut;4. Sanford Health, Medical Genetics Laboratory, Sioux Falls, South Dakota;5. Division of Clinical Genetics, University of Nebraska Medical Center, Munroe‐Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska;6. Correspondence to:;7. Lois J. Starr, M.D., Division of Genetic Medicine, 985440 Nebraska Medical Center, Omaha, NE 68198‐5440.;8. E‐mail:
Abstract:
Keywords:6q duplication  proximal 6q duplication  6q14q16  immune deficiency  sensorineural hearing loss
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