Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

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第一作者： Owen M,Siggs

第一单位： Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.

作者： Owen M,Siggs ^[1] ; Emmanuelle,Souzeau ^[1] ; Francesca,Pasutto ^[2] ; Andrew,Dubowsky ^[3] ; James E H,Smith ^[4] ; Deepa,Taranath ^[5] ; John,Pater ^[6] ; Julian L,Rait ^[1] ; Andrew,Narita ^[1] ; Lucia,Mauri ^[7] ; Alessandra,Del Longo ^[8] ; André,Reis ^[9] ; Angela,Chappell ^[10] ; Lisa S,Kearns ^[11] ; Sandra E,Staffieri ^[2] ; James E,Elder ^[1] ; Jonathan B,Ruddle ^[7] ; Alex W,Hewitt ^[8] ; Kathryn P,Burdon ^[7] ; David A,Mackey ^[8] ; Jamie E,Craig ^[12]

作者单位： Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia. ^[1] Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany. ^[2] SA Pathology, Flinders Medical Centre, Adelaide, Australia. ^[3] Department of Ophthalmology, Children's Hospital at Westmead, Sydney, Australia. ^[4] Discipline of Ophthalmology, University of Sydney, Sydney, Australia. ^[5] Department of Ophthalmology, Macquarie University, Sydney, Australia. ^[6] Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia. ^[7] Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Australia. ^[8] Geelong Eye Centre, Geelong, Australia. ^[9] Medical Genetics Unit, Department of Laboratory Medicine, l'Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda, Milan, Italy. ^[10] Pediatric Ophthalmology Unit, l'Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda, Milan, Italy. ^[11] Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia. ^[12] Department of Paediatrics, University of Melbourne, Melbourne, Australia. ^[13] Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia. ^[14] Centre for Ophthalmology and Visual Science and Lions Eye Institute, University of Western Australia, Perth, Australia. ^[15]

主题词青少年(Adolescent);成年人(Adult);澳大利亚(Australia);儿童(Child);女(雌)性(Female);叉头转录因子类(Forkhead Transcription Factors);青光眼(Glaucoma);人类(Humans);男(雄)性(Male);新西兰(New Zealand);患病率(Prevalence);青年人(Young Adult)

DOI 10.1001/jamaophthalmol.2018.5646

PMID 30653210

发布时间 2020-03-09

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JAMA ophthalmology

2019年137卷4期

348-355页

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Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

JAMA ophthalmology

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Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

JAMA ophthalmology

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JAMA ophthalmology

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