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Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra, Alejandro; Rabin, Rachel; Pappas, John; Pascual, Patricia; Cazalla, Mario; Arias, Pedro; Gallego-Zazo, Natalia; Santana, Alfredo; Arroyo, Ignacio; Artigas, Mercè; Pachajoa, Harry; Alanay, Yasemin; Akgun-Dogan, Ozlem; Ruaud, Lyse; Couque, Nathalie; Levy, Jonathan; Porras-Hurtado, Gloria Liliana; Santos-Simarro, Fernando; Ballesta-Martinez, Maria Juliana; Guillén-Navarro, Encarna; Muñoz-Hernández, Hugo; Nevado, Julián; Tenorio-Castano, Jair; Lapunzina, Pablo.
Afiliação
  • Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.
  • Rabin R; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.
  • Pappas J; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Pascual P; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.
  • Cazalla M; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.
  • Arias P; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA.
  • Gallego-Zazo N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.
  • Santana A; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.
  • Arroyo I; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Artigas M; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.
  • Pachajoa H; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.
  • Alanay Y; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.
  • Akgun-Dogan O; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Ruaud L; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.
  • Couque N; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.
  • Levy J; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Porras-Hurtado GL; Clinical Genetics Unit, Complejo Hospitalario Universitario Insular-Materno Infantil de Las Palmas de Gran Canaria, 35016 Las Palmas de Gran Canaria, Spain.
  • Santos-Simarro F; Pediatrics Department, San Pedro de Alcántara Hospital, 10003 Cáceres, Spain.
  • Ballesta-Martinez MJ; Genetics Unit, Hospital de Navarra, 31008 Pamplona, Spain.
  • Guillén-Navarro E; Fundación Valle del Lili, Universidad Icesi, 760032 Cali, Colombia.
  • Muñoz-Hernández H; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.
  • Nevado J; Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.
  • Spanish OverGrowth Registry Initiative; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.
  • Tenorio-Castano J; Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.
  • Lapunzina P; Department of Genetics, APHP-Robert Debré University Hospital, 75019 Paris, France.
Genes (Basel) ; 14(6)2023 05 29.
Article em En | MEDLINE | ID: mdl-37372360
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista / Deficiência Intelectual Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista / Deficiência Intelectual Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha