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The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs, Owen M; Awadalla, Mona S; Souzeau, Emmanuelle; Staffieri, Sandra E; Kearns, Lisa S; Laurie, Kate; Kuot, Abraham; Qassim, Ayub; Edwards, Thomas L; Coote, Michael A; Mancel, Erica; Walland, Mark J; Dondey, Joanne; Galanopoulous, Anna; Casson, Robert J; Mills, Richard A; MacArthur, Daniel G; Ruddle, Jonathan B; Burdon, Kathryn P; Craig, Jamie E.
Afiliação
  • Siggs OM; Department of Ophthalmology, Flinders University, Adelaide, Australia.
  • Awadalla MS; Department of Ophthalmology, Flinders University, Adelaide, Australia.
  • Souzeau E; Department of Ophthalmology, Flinders University, Adelaide, Australia.
  • Staffieri SE; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
  • Kearns LS; Department of Ophthalmology, University of Melbourne, Melbourne, Australia.
  • Laurie K; Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia.
  • Kuot A; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
  • Qassim A; Department of Ophthalmology, Flinders University, Adelaide, Australia.
  • Edwards TL; Department of Ophthalmology, Flinders University, Adelaide, Australia.
  • Coote MA; Department of Ophthalmology, Flinders University, Adelaide, Australia.
  • Mancel E; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
  • Walland MJ; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
  • Dondey J; Centre Hospitalier Territorial de Nouvelle-Calédonie, Noumea, New Caledonia.
  • Galanopoulous A; Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
  • Casson RJ; Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
  • Mills RA; Discipline of Ophthalmology & Visual Sciences, University of Adelaide, Adelaide, Australia.
  • MacArthur DG; Discipline of Ophthalmology & Visual Sciences, University of Adelaide, Adelaide, Australia.
  • Ruddle JB; Department of Ophthalmology, Flinders University, Adelaide, Australia.
  • Burdon KP; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, Massachusetts.
  • Craig JE; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
Clin Genet ; 97(5): 764-769, 2020 05.
Article em En | MEDLINE | ID: mdl-32052405
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Glaucoma de Ângulo Fechado / Microftalmia / Serina Proteases / Hiperopia / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Oceania Idioma: En Ano de publicação: 2020 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: Fatores de Transcrição / Glaucoma de Ângulo Fechado / Microftalmia / Serina Proteases / Hiperopia / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Oceania Idioma: En Ano de publicação: 2020 Tipo de documento: Article