Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Autor: Yap KL; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Johnson AEK; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA., Fischer D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA., Kandikatla P; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA., Deml J; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA., Nelakuditi V; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA., Halbach S; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA., Jeha GS; Pediatric Diabetes and Endocrinology, Texas Children's Hospital, Houston, Texas, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Benavides VC; Division of Pediatric Endocrinology, University of Illinois College of Medicine, Peoria, Illinois, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Newcastle upon Tyne, UK., Shah P; Great Ormond Street Hospital, London, UK., Cody D; Our Lady's Children's Hospital, Crumlin, Dublin, Ireland., Diaz A; Pediatric Endocrinology, Pediatric Specialists of America, Nicklaus Children's Hospital, Miami, Florida, USA., Devarajan A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Truong L; Cook Children's Medical Center, Fort Worth, Texas, USA., Greeley SAW; Department of Pediatrics and Medicine, The University of Chicago Medicine, Chicago, Illinois, USA., De Leó-Crutchlow DD; Department of Pediatrics, Divisions of Endocrinology and Genetics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Das S; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA., Thornton P; Cook Children's Medical Center, Fort Worth, Texas, USA., Waggoner D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA., Del Gaudio D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA. ddelgaudio@bsd.uchicago.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 233-242. Date of Electronic Publication: 2018 Jun 15.