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

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Bibliographic Details
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
Description
ISSN:1399-0004
DOI:10.1111/cge.14020