Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
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| Title: | Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. |
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| Authors: | Panagiotou ES; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Fernandez-Fuentes N; Institute of Biological, Environmental & Rural Sciences, Aberystwyth University, United Kingdom., Farraj LA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.; Eye Clinic, St. James's University Hospital, Leeds, United Kingdom., Elçioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.; Eastern Mediterrean University of Medical School, Cyprus, Turkey., Jafri H; Fatima Jinnah Medical University, Lahore, Pakistan., Cerman E; Department of Ophthalmology, Marmara University Medical School, Istanbul, Turkey., Parry DA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Logan CV; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Johnson CA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom. |
| Source: | Molecular vision [Mol Vis] 2022 May 17; Vol. 28, pp. 57-69. Date of Electronic Publication: 2022 May 17 (Print Publication: 2022). |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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