Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Autor: Wigby K; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Hammer M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Tokita M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Patel P; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California, USA., Jones MC; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California, USA., Larson A; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Bartolomei FV; Torre Medica del San Jorge Hospital, San Juan, Puerto Rico, USA.; Department of Pediatrics, Division of Genetics, Stanford University, Palo Alto, California, USA., Dykzeul N; Department of Pediatrics, Division of Genetics, Stanford University, Palo Alto, California, USA., Slavotinek A; Department of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, California, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA., Yip T; Department of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, California, USA., Bandres-Ciga S; Center for Alzheimer's Disease and Related Dementias (CARD), National Institute on Aging (NIA), National Institutes of Health (NIH), Bethesda, Maryland, USA., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA., Suhrie K; Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Genetics, Division of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Shankar S; Department of Pediatrics, Division of Genetics, University of California, Davis, Sacramento, California, USA., Veith R; Children's Minnesota, Minneapolis, Minnesota, USA., Bragg J; Department of Pediatrics, Division of Newborn Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Powell C; Department of Pediatrics, University of North Carolina-Chapel Hill, Chapel Hill, North Carolina, USA., Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Dimmock D; Creyon Bio Inc, San Diego, California, USA., Maron J; Mother Infant Research Institute, Tufts Medical Center, Boston, Massachusetts, USA.; Department of Pediatrics, The Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts, USA.; Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., Davis J; Department of Pediatrics, The Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts, USA.; The Tufts Clinical and Translation Science Institute, Tufts University School of Medicine, Boston, Massachusetts, USA., Del Campo M; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Apr; Vol. 191 (4), pp. 930-940. Date of Electronic Publication: 2023 Jan 18.