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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-32573066
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Fibrosis / Ophthalmoplegia / Genetic Predisposition to Disease / Malformations of Cortical Development / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Italy
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Fibrosis / Ophthalmoplegia / Genetic Predisposition to Disease / Malformations of Cortical Development / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Italy