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Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.

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Title: Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
Authors: Maharaj AV; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom., Cottrell E; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom., Thanasupawat T; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada., Joustra SD; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands., Triggs-Raine B; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Fujimoto M; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, USA., Kant SG; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands., van der Kaay D; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, Netherlands., Clement-de Boers A; Department of Paediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Aguirre GA; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico., Martín Del Estal I; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico., Castilla de Cortázar Larrea MI; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico., Massoud A; Department of Paediatrics and Child Health, HCA Healthcare UK, London, United Kingdom., van Duyvenvoorde HA; Laboratory for Diagnostic Genome analysis (LDGA), Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands., De Bruin C; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands., Hwa V; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, USA., Klonisch T; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Pathology, and.; Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Manitoba, Canada., Hombach-Klonisch S; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Pathology, and., Storr HL; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom.
Source: JCI insight [JCI Insight] 2024 Feb 20; Vol. 9 (6). Date of Electronic Publication: 2024 Feb 20.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Maharaj+AV%22">Maharaj AV</searchLink>; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cottrell+E%22">Cottrell E</searchLink>; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Thanasupawat+T%22">Thanasupawat T</searchLink>; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Joustra+SD%22">Joustra SD</searchLink>; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22Triggs-Raine+B%22">Triggs-Raine B</searchLink>; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Fujimoto+M%22">Fujimoto M</searchLink>; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, USA.<br /><searchLink fieldCode="AU" term="%22Kant+SG%22">Kant SG</searchLink>; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Kaay+D%22">van der Kaay D</searchLink>; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Clement-de+Boers+A%22">Clement-de Boers A</searchLink>; Department of Paediatrics, Juliana Children's Hospital/Haga Teaching Hospital, The Hague, Netherlands.<br /><searchLink fieldCode="AU" term="%22Brooks+AS%22">Brooks AS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Aguirre+GA%22">Aguirre GA</searchLink>; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico.<br /><searchLink fieldCode="AU" term="%22Martín+Del+Estal+I%22">Martín Del Estal I</searchLink>; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico.<br /><searchLink fieldCode="AU" term="%22Castilla+de+Cortázar+Larrea+MI%22">Castilla de Cortázar Larrea MI</searchLink>; CITES - Escuela Nacional de Medicina, TEC de Monterrey, Monterrey, Nuevo León, Mexico.<br /><searchLink fieldCode="AU" term="%22Massoud+A%22">Massoud A</searchLink>; Department of Paediatrics and Child Health, HCA Healthcare UK, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22van+Duyvenvoorde+HA%22">van Duyvenvoorde HA</searchLink>; Laboratory for Diagnostic Genome analysis (LDGA), Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22De+Bruin+C%22">De Bruin C</searchLink>; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22Hwa+V%22">Hwa V</searchLink>; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, USA.<br /><searchLink fieldCode="AU" term="%22Klonisch+T%22">Klonisch T</searchLink>; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Pathology, and.; Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Hombach-Klonisch+S%22">Hombach-Klonisch S</searchLink>; Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Pathology, and.<br /><searchLink fieldCode="AU" term="%22Storr+HL%22">Storr HL</searchLink>; Centre for Endocrinology, William Harvey Research Institute, QMUL, London, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%22101676073%22">JCI insight</searchLink> [JCI Insight] 2024 Feb 20; Vol. 9 (6). <i>Date of Electronic Publication: </i>2024 Feb 20.
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              Text: 2024 Feb 20
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