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TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici, Maria L; Maglione, Vittorio; Agolini, Emanuele; Catena, Gino; Capolino, Rossella; Lanari, Valentina; Novelli, Antonio; Sinibaldi, Lorenzo; Vecchio, Davide; Gonfiantini, Michaela V; Macchiaiolo, Marina; Digilio, Maria C; Dallapiccola, Bruno; Bartuli, Andrea.
Afiliação
  • Dentici ML; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Maglione V; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Catena G; Department of Ophthalmology, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Capolino R; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Lanari V; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Sinibaldi L; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Vecchio D; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Gonfiantini MV; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Macchiaiolo M; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Digilio MC; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Dallapiccola B; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
  • Bartuli A; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.
Am J Med Genet A ; 182(8): 1977-1984, 2020 08.
Article em En | MEDLINE | ID: mdl-32573066
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Fibrose / Oftalmoplegia / Predisposição Genética para Doença / Malformações do Desenvolvimento Cortical / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Fibrose / Oftalmoplegia / Predisposição Genética para Doença / Malformações do Desenvolvimento Cortical / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article