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Subjects: Color Vision* ; Microphthalmos*; Genetic Diseases, X-Linked Cataract, congenital, with microcornea or slight microphthalmia
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Source:
Scientific reports [Sci Rep] 2022 Nov 23; Vol. 12 (1), pp. 20223. Date of Electronic Publication: 2022 Nov 23.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited
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Authors :
García-Llorca A; Department of Physiology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101, Reykjavík, Iceland.; Department of Ophthalmology, Landspitali National University Hospital, Eiriksgata 37, 101, Reykjavik, Iceland.
Subjects: Microphthalmia-Associated Transcription Factor/Microphthalmia-Associated Transcription Factor/Microphthalmia-Associated Transcription Factor/*metabolism ; Microphthalmos/Microphthalmos/Microphthalmos/*genetics ; Retinal Pigment Epithelium/Retinal Pigment Epithelium/Retinal Pigment Epithelium/*metabolism
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Source:
Scientific reports [Sci Rep] 2019 Oct 28; Vol. 9 (1), pp. 15386. Date of Electronic Publication: 2019 Oct 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited
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Authors :
Masingue M; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France.; Service de Neuromyologie, Centre de Référence Neuromusculaire, APHP, Paris, France.
Subjects: Myasthenic Syndromes, Congenital*/Myasthenic Syndromes, Congenital*/Myasthenic Syndromes, Congenital*/genetics; Microphthalmos ; Agrin/Agrin/Agrin/genetics Microphthalmia, syndromic 1
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Source:
Scientific reports [Sci Rep] 2023 Aug 28; Vol. 13 (1), pp. 14054. Date of Electronic Publication: 2023 Aug 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited
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