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Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

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Title: Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.
Authors: Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., McKenna C; Northern Ireland Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, Ireland., Stals K; Exeter Genomics Laboratory, Exeter, UK., Vitobello A; CHU Dijon Bourgogne, Service de Génomique médicale-Centre NEOMICS, FHU Translad, Dijon, France, Dijon, France.; Université Bourgogne Europe-Inserm UMR1231 équipe GAD, Dijon, France., Renaud M; Service de Génétique Clinique-Hôpital d'enfants-CHRU de Nancy, Nancy, France.; Service de Neurologie-Hôpital Central-CHRU de Nancy, Nancy, France.; INSERM U1256 NGERE-Nutrition-Génétique et Exposition aux Risques Environnementaux-Faculté de Médecine, Université de Lorraine, Nancy, France., Rieubland C; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland., Guipponi M; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Philippe C; CHR Metz Thionville, Laboratoire de Génétique Médicale, Hôpital Mercy, Metz, France., Vrana P; Department of Pathology and Laboratory Medicine, Precision Diagnostics Laboratory, Children's Hospital of Colorado, Aurora, Colorado, USA., Gaskell A; Department of Pathology and Laboratory Medicine, Precision Diagnostics Laboratory, Children's Hospital of Colorado, Aurora, Colorado, USA.; Precision Medicine Institute, Children's Hospital Colorado, Aurora, Colorado, USA., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ahrens-Nicklas R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Keller K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Chaudhari BP; Divisions of Neonatology, Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Stone BS; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Divisions of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64119. Date of Electronic Publication: 2025 May 26.
Publication Type: Journal Article; Case Reports; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
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  Data: Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.
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  Data: <searchLink fieldCode="AU" term="%22Strong+A%22">Strong A</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22McKenna+C%22">McKenna C</searchLink>; Northern Ireland Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, Ireland.<br /><searchLink fieldCode="AU" term="%22Stals+K%22">Stals K</searchLink>; Exeter Genomics Laboratory, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; CHU Dijon Bourgogne, Service de Génomique médicale-Centre NEOMICS, FHU Translad, Dijon, France, Dijon, France.; Université Bourgogne Europe-Inserm UMR1231 équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Renaud+M%22">Renaud M</searchLink>; Service de Génétique Clinique-Hôpital d'enfants-CHRU de Nancy, Nancy, France.; Service de Neurologie-Hôpital Central-CHRU de Nancy, Nancy, France.; INSERM U1256 NGERE-Nutrition-Génétique et Exposition aux Risques Environnementaux-Faculté de Médecine, Université de Lorraine, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Rieubland+C%22">Rieubland C</searchLink>; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Guipponi+M%22">Guipponi M</searchLink>; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; CHR Metz Thionville, Laboratoire de Génétique Médicale, Hôpital Mercy, Metz, France.<br /><searchLink fieldCode="AU" term="%22Vrana+P%22">Vrana P</searchLink>; Department of Pathology and Laboratory Medicine, Precision Diagnostics Laboratory, Children's Hospital of Colorado, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Gaskell+A%22">Gaskell A</searchLink>; Department of Pathology and Laboratory Medicine, Precision Diagnostics Laboratory, Children's Hospital of Colorado, Aurora, Colorado, USA.; Precision Medicine Institute, Children's Hospital Colorado, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Rippert+AL%22">Rippert AL</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Ahrens-Nicklas+R%22">Ahrens-Nicklas R</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Bhoj+E%22">Bhoj E</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Keller+K%22">Keller K</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Chaudhari+BP%22">Chaudhari BP</searchLink>; Divisions of Neonatology, Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Stone+BS%22">Stone BS</searchLink>; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Divisions of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64119. <i>Date of Electronic Publication: </i>2025 May 26.
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