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A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes.
Shapiro, Melanie R; Foster, Timothy P; Perry, Daniel J; Rosenfeld, Ron G; Dauber, Andrew; McNichols, James A; Muir, Andrew; Hwa, Vivian; Brusko, Todd M; Jacobsen, Laura M.
Afiliación
  • Shapiro MR; Department of Pathology, Immunology, and Laboratory Medicine, University of Florida Diabetes Institute, Gainesville, Florida, USA.
  • Foster TP; Department of Pediatrics, University of Florida, Gainesville, Florida, USA.
  • Perry DJ; Department of Pathology, Immunology, and Laboratory Medicine, University of Florida Diabetes Institute, Gainesville, Florida, USA.
  • Rosenfeld RG; Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.
  • Dauber A; Division of Endocrinology, Children's National Hospital, Washington, District of Columbia, USA.
  • McNichols JA; Department of Pathology, Immunology, and Laboratory Medicine, University of Florida Diabetes Institute, Gainesville, Florida, USA.
  • Muir A; Department of Pediatrics, Emory University, Atlanta, Georgia, USA.
  • Hwa V; Division of Endocrinology, Department of Pediatrics, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, University of Cincinnati Medical Center, Cincinnati, Ohio, USA.
  • Brusko TM; Department of Pathology, Immunology, and Laboratory Medicine, University of Florida Diabetes Institute, Gainesville, Florida, USA.
  • Jacobsen LM; Department of Pediatrics, University of Florida, Gainesville, Florida, USA, lauraj@ufl.edu.
Horm Res Paediatr ; 93(5): 322-334, 2020.
Article en En | MEDLINE | ID: mdl-33113547
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Receptor IGF Tipo 1 / Codón sin Sentido / Hipoglucemia Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Female / Humans / Newborn Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Receptor IGF Tipo 1 / Codón sin Sentido / Hipoglucemia Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Female / Humans / Newborn Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos