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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

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Title: Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Authors: Tenorio-Castaño JA; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Fernández-Jaén A; Hospital Universitario Quirónsalud Madrid, Universidad Europea de Madrid, Spain., Lay-Son G; Unidad de Genética, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de, Chile., Bueno-Lozano G; Unit of Clinical Genetics, Service of Paediatrics, School of Medicine, University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER-GCV02 and ISS-Aragón, Zaragoza, Spain., Bayat A; Department of Pediatrics, Hvidovre Hospital, University of Copenhagen, Denmark., Faivre L; Ithaca, European Reference Network, Brussels, Belgium.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Gallego N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium., Ramos S; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Butler KM; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Morel C; University Health Network, Fred A. Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Hadjiyannakis S; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada., Lespinasse J; Service de Cytogenetique, Centre Hospitalier de Chambéry, Chambéry, France., Tran-Mau-Them F; UF6254 Innovation en Diagnostic Genomique des Maladies Rares Bat, Pôle de Biologie, CHU, Dijon, France., Santos-Simarro F; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.; Clinical Genetics section, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Pinson L; Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France., Martínez-Monseny AF; Clinical Genetics section, Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.; Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain., O'Callaghan Cord MDM; Clinical Genetics section, Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain., Álvarez S; NIMGENETICS, Calle de Anabel Segura, Madrid, Spain., Stolerman ES; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Washington C; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Ramos FJ; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Unit of Clinical Genetics, Service of Paediatrics, School of Medicine, University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER-GCV02 and ISS-Aragón, Zaragoza, Spain.; Unit of Pediatric Endocrinology, Service of Paediatrics, University Hospital Lozano Blesa, Zaragoza, Spain., The S O G R I Consortium; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.
Source: Clinical genetics [Clin Genet] 2021 Oct; Vol. 100 (4), pp. 405-411. Date of Electronic Publication: 2021 Jul 16.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
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  Data: <searchLink fieldCode="AU" term="%22Tenorio-Castaño+JA%22">Tenorio-Castaño JA</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Arias+P%22">Arias P</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Jaén+A%22">Fernández-Jaén A</searchLink>; Hospital Universitario Quirónsalud Madrid, Universidad Europea de Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Lay-Son+G%22">Lay-Son G</searchLink>; Unidad de Genética, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de, Chile.<br /><searchLink fieldCode="AU" term="%22Bueno-Lozano+G%22">Bueno-Lozano G</searchLink>; Unit of Clinical Genetics, Service of Paediatrics, School of Medicine, University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER-GCV02 and ISS-Aragón, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Pediatrics, Hvidovre Hospital, University of Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Ithaca, European Reference Network, Brussels, Belgium.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Gallego+N%22">Gallego N</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Ramos+S%22">Ramos S</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Butler+KM%22">Butler KM</searchLink>; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Morel+C%22">Morel C</searchLink>; University Health Network, Fred A. Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Department of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Hadjiyannakis+S%22">Hadjiyannakis S</searchLink>; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Lespinasse+J%22">Lespinasse J</searchLink>; Service de Cytogenetique, Centre Hospitalier de Chambéry, Chambéry, France.<br /><searchLink fieldCode="AU" term="%22Tran-Mau-Them+F%22">Tran-Mau-Them F</searchLink>; UF6254 Innovation en Diagnostic Genomique des Maladies Rares Bat, Pôle de Biologie, CHU, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Santos-Simarro+F%22">Santos-Simarro F</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.; Clinical Genetics section, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pinson+L%22">Pinson L</searchLink>; Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Martínez-Monseny+AF%22">Martínez-Monseny AF</searchLink>; Clinical Genetics section, Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.; Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22O'Callaghan+Cord+MDM%22">O'Callaghan Cord MDM</searchLink>; Clinical Genetics section, Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Álvarez+S%22">Álvarez S</searchLink>; NIMGENETICS, Calle de Anabel Segura, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Stolerman+ES%22">Stolerman ES</searchLink>; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Washington+C%22">Washington C</searchLink>; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Ramos+FJ%22">Ramos FJ</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Unit of Clinical Genetics, Service of Paediatrics, School of Medicine, University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER-GCV02 and ISS-Aragón, Zaragoza, Spain.; Unit of Pediatric Endocrinology, Service of Paediatrics, University Hospital Lozano Blesa, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22The+S+O+G+R+I+Consortium%22">The S O G R I Consortium</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Lapunzina+P%22">Lapunzina P</searchLink>; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.
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