首页> Acta ophthalmologica> Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

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第一作者： Elena,Lang

第一单位： Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.;Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.

作者： Elena,Lang ^[1] ; Samuel,Koller ^[2] ; David,Atac ^[2] ; Oliver A,Pfäffli ^[3] ; James V M,Hanson ^[3] ; Silke,Feil ^[2] ; Luzy,Bähr ^[2] ; Angela,Bahr ^[4] ; Raimund,Kottke ^[5] ; Pascal,Joset ^[4] ; Katrin,Fasler ^[3] ; Daniel,Barthelmes ^[6] ; Katharina,Steindl ^[4] ; Daniel,Konrad ^[7] ; David-Alexander,Wille ^[8] ; Wolfgang,Berger ^[9] ; Christina,Gerth-Kahlert ^[3]

作者单位： Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.;Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. ^[1] Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. ^[2] Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland. ^[3] Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. ^[4] Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich, Switzerland. ^[5] Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.;Save Sight Institute, The University of Sydney, Sydney, NSW, Australia. ^[6] Department of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland. ^[7] Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland. ^[8] Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.;Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.;Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland. ^[9]

关键词 FAM111A MFRP PRSS56 Kenny-Caffey syndrome nanophthalmia nanophthalmos posterior microphthalmos