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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Yap, Kai Lee; Johnson, Amy E Knight; Fischer, David; Kandikatla, Priscilla; Deml, Jacea; Nelakuditi, Viswateja; Halbach, Sara; Jeha, George S; Burrage, Lindsay C; Bodamer, Olaf; Benavides, Valeria C; Lewis, Andrea M; Ellard, Sian; Shah, Pratik; Cody, Declan; Diaz, Alejandro; Devarajan, Aishwarya; Truong, Lisa; Greeley, Siri Atma W; De Leó-Crutchlow, Diva D; Edmondson, Andrew C; Das, Soma; Thornton, Paul; Waggoner, Darrel; Del Gaudio, Daniela.
Afiliación
  • Yap KL; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
  • Johnson AEK; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital 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; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
  • Burrage LC; Pediatric Diabetes and Endocrinology, Texas Children's Hospital, Houston, Texas, USA.
  • Bodamer O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Benavides VC; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Lewis AM; Division of Pediatric Endocrinology, University of Illinois College of Medicine, Peoria, Illinois, USA.
  • Ellard S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Shah P; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Newcastle upon Tyne, UK.
  • Cody D; Great Ormond Street Hospital, London, UK.
  • Diaz A; Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
  • Devarajan A; Pediatric Endocrinology, Pediatric Specialists of America, Nicklaus Children's Hospital, Miami, Florida, USA.
  • Truong L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Greeley SAW; Cook Children's Medical Center, Fort Worth, Texas, USA.
  • De Leó-Crutchlow DD; Department of Pediatrics and Medicine, The University of Chicago Medicine, Chicago, Illinois, USA.
  • Edmondson AC; 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.
  • Das S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Thornton P; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
  • Waggoner D; Cook Children's Medical Center, Fort Worth, Texas, USA.
  • Del Gaudio D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.
Genet Med ; 21(1): 233-242, 2019 01.
Article en En | MEDLINE | ID: mdl-29907798
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas Nucleares / Enfermedades Vestibulares / Hiperinsulinismo Congénito / Proteínas de Unión al ADN / Cara / Histona Demetilasas / Enfermedades Hematológicas / Proteínas de Neoplasias Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas Nucleares / Enfermedades Vestibulares / Hiperinsulinismo Congénito / Proteínas de Unión al ADN / Cara / Histona Demetilasas / Enfermedades Hematológicas / Proteínas de Neoplasias Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article