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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Niceta, Marcello; Pizzi, Simone; Inzana, Francesca; Peron, Angela; Bakhtiari, Somayeh; Nizon, Mathilde; Levy, Jonathan; Mancini, Cecilia; Cogné, Benjamin; Radio, Francesca Clementina; Agolini, Emanuele; Cocciadiferro, Dario; Novelli, Antonio; Salih, Mustafa A; Recalcati, Maria Paola; Arancio, Rosangela; Besnard, Marianne; Tabet, Anne-Claude; Kruer, Michael C; Priolo, Manuela; Dallapiccola, Bruno; Tartaglia, Marco.
Afiliação
  • Niceta M; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Pizzi S; Department of Pediatrics, Sapienza University, Rome, Italy.
  • Inzana F; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Peron A; Genetic Counseling Service, Regional Hospital of Bolzano, Bolzano, Italy.
  • Bakhtiari S; Medical Genetics, ASST Santi Paolo e Carlo, Ospedale San Paolo, Milan, Italy.
  • Nizon M; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
  • Levy J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Mancini C; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.
  • Cogné B; CHU Nantes, Service de Génétique Médicale, L'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Radio FC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Agolini E; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cocciadiferro D; Laboratoire de Génétique Moléculaire, CHU de Nantes, Nantes, France.
  • Novelli A; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Salih MA; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Recalcati MP; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Arancio R; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Besnard M; Neurology Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Tabet AC; Department of Pediatrics, College of Medicine, Almughtaribeen University, Khartoum, Sudan.
  • Kruer MC; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy.
  • Priolo M; Clinica Pediatrica, Ospedale San Paolo, ASST Santi Paolo Carlo, Milan, Italy.
  • Dallapiccola B; Service de Néonatologie, Centre Hospitalier de Polynésie Française, Papeete, French Polynesia.
  • Tartaglia M; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France.
Clin Genet ; 103(2): 156-166, 2023 02.
Article em En | MEDLINE | ID: mdl-36224108
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article