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Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman, Mary C; Andrews, Caroline; Chan, Wai-Man; Tischfield, Max A; Stasheff, Steven F; Brancati, Francesco; Ortiz-Gonzalez, Xilma; Nuovo, Sara; Garaci, Francesco; MacKinnon, Sarah E; Hunter, David G; Grant, P Ellen; Engle, Elizabeth C.
Afiliação
  • Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.
  • Andrews C; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.
  • Chan WM; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.
  • Tischfield MA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.
  • Stasheff SF; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Brancati F; Department of Neurology, Harvard Medical School, Boston, Massachusetts.
  • Ortiz-Gonzalez X; Howard Hughes Medical Institute, Chevy Chase, Maryland.
  • Nuovo S; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.
  • Garaci F; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • MacKinnon SE; Department of Neurology, Harvard Medical School, Boston, Massachusetts.
  • Hunter DG; Howard Hughes Medical Institute, Chevy Chase, Maryland.
  • Grant PE; Program in Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Engle EC; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.
Am J Med Genet A ; 170A(2): 297-305, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26639658
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Oftalmopatias Hereditárias / Malformações do Desenvolvimento Cortical / Mutação Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Oftalmopatias Hereditárias / Malformações do Desenvolvimento Cortical / Mutação Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article