Novel disease-causing variants and phenotypic features of X-linked megalocornea.
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| Title: | Novel disease-causing variants and phenotypic features of X-linked megalocornea. |
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| Authors: | 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.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Jedlickova J; 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., Fichtl M; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Hlozanek M; Department of Ophthalmology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Ophthalmology Department, Third Faculty of Medicine, Charles University and Teaching Hospital Kralovske Vinohrady, Prague, Czech Republic., Filous A; Department of Ophthalmology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Vaneckova M; Department of Radiodiagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand., Hardcastle AJ; UCL Institute of Ophthalmology, London, UK., Davidson AE; UCL Institute of Ophthalmology, London, UK., Liskova 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.; UCL Institute of Ophthalmology, London, UK.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. |
| Source: | Acta ophthalmologica [Acta Ophthalmol] 2022 Jun; Vol. 100 (4), pp. 431-439. Date of Electronic Publication: 2021 Oct 13. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1755-3768 |
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| DOI: | 10.1111/aos.15022 |
