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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.
Marakhonov, Andrey V; Mishina, Irina A; Kadyshev, Vitaly V; Repina, Svetlana A; Shurygina, Maria F; Shchagina, Olga A; Vasserman, Natalya N; Vasilyeva, Tatyana A; Kutsev, Sergey I; Zinchenko, Rena A.
  • Marakhonov AV; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation. marakhonov@generesearch.ru.
  • Mishina IA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Kadyshev VV; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Repina SA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Shurygina MF; S. Fyodorov Eye Microsurgery Federal State Institution, Moscow, Russian Federation.
  • Shchagina OA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Vasserman NN; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Vasilyeva TA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Kutsev SI; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.
  • Zinchenko RA; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moscow, Russian Federation.
BMC Med Genet ; 21(Suppl 1): 156, 2020 10 22.
Article en En | MEDLINE | ID: mdl-33092543
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Degeneración Retiniana / Espasmos Infantiles / Ceguera / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas del Ojo / Proteínas del Tejido Nervioso / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Degeneración Retiniana / Espasmos Infantiles / Ceguera / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas del Ojo / Proteínas del Tejido Nervioso / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Año: 2020 Tipo del documento: Article