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Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand, Katheryn; Gonzalez-Gandolfi, Christina; Ackermann, Amanda M; Aljeaid, Deema; Bedoukian, Emma; Bird, Lynne M; De Leon, Diva D; Diaz, Jullianne; Hopkin, Robert J; Kadakia, Sejal P; Keena, Beth; Klein, Karen O; Krantz, Ian; Leon, Eyby; Lord, Katherine; McDougall, Carey; Medne, Livija; Skraban, Cara M; Stanley, Charles A; Tarpinian, Jennifer; Zackai, Elaine; Deardorff, Matthew A; Kalish, Jennifer M.
Affiliation
  • Grand K; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Gonzalez-Gandolfi C; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Ackermann AM; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Aljeaid D; Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.
  • Bedoukian E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Bird LM; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • De Leon DD; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Diaz J; Department of Pediatrics, Division of Genetics, University of San Diego, California and Rady Children's Hospital, San Diego, California.
  • Hopkin RJ; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Kadakia SP; Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.
  • Keena B; Rare Disease Institute - Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
  • Klein KO; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Krantz I; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
  • Leon E; Department of Pediatrics, Division of Endocrinology, University of San Diego, California and Rady Children's Hospital, San Diego, California.
  • Lord K; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • McDougall C; Department of Pediatrics, Division of Endocrinology, University of San Diego, California and Rady Children's Hospital, San Diego, California.
  • Medne L; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Skraban CM; Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.
  • Stanley CA; Rare Disease Institute - Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
  • Tarpinian J; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Zackai E; Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.
  • Deardorff MA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Kalish JM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Am J Med Genet A ; 179(4): 542-551, 2019 04.
Article in En | MEDLINE | ID: mdl-30719864
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Histone-Lysine N-Methyltransferase / Congenital Hyperinsulinism / Sotos Syndrome / Growth Disorders / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Histone-Lysine N-Methyltransferase / Congenital Hyperinsulinism / Sotos Syndrome / Growth Disorders / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Country of publication: United States