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Novel disease-causing variants and phenotypic features of X-linked megalocornea.
Dudakova, Lubica; Tuft, Stephen; Cheong, Sek-Shir; Skalicka, Pavlina; Jedlickova, Jana; Fichtl, Marek; Hlozanek, Martin; Filous, Ales; Vaneckova, Manuela; Vincent, Andrea L; Hardcastle, Alison J; Davidson, Alice E; Liskova, Petra.
Afiliação
  • Dudakova L; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Tuft S; Moorfields Eye Hospital, London, UK.
  • Cheong SS; UCL Institute of Ophthalmology, London, UK.
  • Skalicka P; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Jedlickova J; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Fichtl M; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Hlozanek M; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Filous A; Department of Ophthalmology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
  • Vaneckova M; Ophthalmology Department, Third Faculty of Medicine, Charles University and Teaching Hospital Kralovske Vinohrady, Prague, Czech Republic.
  • Vincent AL; Department of Ophthalmology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
  • Hardcastle AJ; Department of Radiodiagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Davidson AE; Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
  • Liskova P; UCL Institute of Ophthalmology, London, UK.
Acta Ophthalmol ; 100(4): 431-439, 2022 Jun.
Article em En | MEDLINE | ID: mdl-34644435
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Doenças Genéticas Ligadas ao Cromossomo X / Ceratocone Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Doenças Genéticas Ligadas ao Cromossomo X / Ceratocone Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article