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The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
Men, Clara J; Bujakowska, Kinga M; Comander, Jason; Place, Emily; Bedoukian, Emma C; Zhu, Xiaosong; Leroy, Bart P; Fulton, Anne B; Pierce, Eric A.
Afiliação
  • Men CJ; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.
  • Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.
  • Comander J; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.
  • Place E; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.
  • Bedoukian EC; Ophthalmic Genetics & Visual Electrophysiology, Division of Ophthalmology, The Children's Hospital of Philadelphia, PA.
  • Zhu X; Ophthalmic Genetics & Visual Electrophysiology, Division of Ophthalmology, The Children's Hospital of Philadelphia, PA.
  • Leroy BP; Ophthalmic Genetics & Visual Electrophysiology, Division of Ophthalmology, The Children's Hospital of Philadelphia, PA.
  • Fulton AB; Department of Ophthalmology & Center for Medical Genetics, Ghent University Hospital & Ghent University, Ghent, Belgium.
  • Pierce EA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA.
Mol Vis ; 23: 695-706, 2017.
Article em En | MEDLINE | ID: mdl-29062221
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Cegueira Noturna / Mutação Puntual / Canais de Cálcio Tipo L / Doenças Genéticas Ligadas ao Cromossomo X / Erros de Diagnóstico / Amaurose Congênita de Leber / Miopia Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Infant / Male Idioma: En Revista: Mol Vis Ano de publicação: 2017 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: Oftalmopatias Hereditárias / Cegueira Noturna / Mutação Puntual / Canais de Cálcio Tipo L / Doenças Genéticas Ligadas ao Cromossomo X / Erros de Diagnóstico / Amaurose Congênita de Leber / Miopia Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Infant / Male Idioma: En Revista: Mol Vis Ano de publicação: 2017 Tipo de documento: Article