首页> American journal of medical genetics. Part C, Seminars in medical genetics> Unmasking the challenges of Kabuki syndrome in adulthood: A case series.

Unmasking the challenges of Kabuki syndrome in adulthood: A case series.

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第一作者： Jessica R C,Priestley

第一单位： Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

作者： Jessica R C,Priestley ^[1] ; Alyssa L,Rippert ^[2] ; Courtney,Condit ^[3] ; Kosuke,Izumi ^[2] ; Staci,Kallish ^[4] ; Theodore G,Drivas ^[5]

作者单位： Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. ^[1] Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.;Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. ^[2] Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.;Kaiser Permanente, Tysons Corners Medical Center, Virginia, USA. ^[3] Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.;Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. ^[4] Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. ^[5]

关键词 KMT2D Kabuki syndrome adults