Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

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第一作者： Nicole T M,Saksens

第一单位： Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.

作者： Nicole T M,Saksens ^[1] ; Mark P,Krebs ^[2] ; Frederieke E,Schoenmaker-Koller ^[1] ; Wanda,Hicks ^[2] ; Minzhong,Yu ^[3] ; Lanying,Shi ^[4] ; Lucy,Rowe ^[2] ; Gayle B,Collin ^[2] ; Jeremy R,Charette ^[2] ; Stef J,Letteboer ^[2] ; Kornelia,Neveling ^[5] ; Tamara W,van Moorsel ^[5] ; Sleiman,Abu-Ltaif ^[1] ; Elfride,De Baere ^[6] ; Sophie,Walraedt ^[7] ; Sandro,Banfi ^[6] ; Francesca,Simonelli ^[8] ; Frans P M,Cremers ^[9] ; Camiel J F,Boon ^[10] ; Ronald,Roepman ^[5] ; Bart P,Leroy ^[1] ; Neal S,Peachey ^[11] ; Carel B,Hoyng ^[5] ; Patsy M,Nishina ^[6] ; Anneke I,den Hollander ^[7]

作者单位： Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands. ^[1] The Jackson Laboratory, Bar Harbor, Maine, USA. ^[2] Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA. ^[3] Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA. ^[4] Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. ^[5] Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium. ^[6] Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. ^[7] Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. ^[8] Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy. ^[9] Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy. ^[10] Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands. ^[11] Division of Ophthalmology, The Children's Hospital of Ophthalmology, Philadelphia, Pennsylvania, USA. ^[12] Center for Cellular and Molecular Therapeutics, The Children's Hospital of Ophthalmology, Philadelphia, Pennsylvania, USA. ^[13] Research Service, Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, USA. ^[14]