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Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.
Meunier, Audrey; Zanlonghi, Xavier; Roux, Anne-Françoise; Fils, Jean-François; Caspers, Laure; Migeotte, Isabelle; Abramowicz, Marc; Meunier, Isabelle.
Afiliação
  • Meunier A; Department of Ophthalmology, University Hospital Saint-Pierre, Université Libre de Bruxelles (ULB), Bruxelles, Belgium.
  • Zanlonghi X; Centre de compétence Maladies rares, Jules Verne Clinic, Nantes, France.
  • Roux AF; Laboratory of Molecular Genetics, University of Montpellier, Montpellier University Hospital, Montpellier, France.
  • Fils JF; Institute for Neurosciences of Montpellier, INSERM, University of Montpellier, Montpellier, France.
  • Caspers L; Ars Statistica, Nivelles, Belgium.
  • Migeotte I; Department of Ophthalmology, University Hospital Saint-Pierre, Université Libre de Bruxelles (ULB), Bruxelles, Belgium.
  • Abramowicz M; Genetic department, IRIBHM, Université Libre de Bruxelles, Bruxelles, Belgium.
  • Meunier I; Genetic department, IRIBHM, Université Libre de Bruxelles, Bruxelles, Belgium.
Ophthalmic Genet ; 43(4): 470-475, 2022 08.
Article em En | MEDLINE | ID: mdl-35345973

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas da Matriz Extracelular / Síndromes de Usher Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Ophthalmic Genet Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas da Matriz Extracelular / Síndromes de Usher Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Ophthalmic Genet Ano de publicação: 2022 Tipo de documento: Article