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A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.

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Title: A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.
Authors: Min JS; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea., Kim TI; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea., Shin KJ; Department of Forensic Medicine, Yonsei University College of Medicine, Seoul, Korea., Choi J; Department of Ophthalmology, Saevit Eye Hospital, Goyang-Si, Korea., Stulting RD; Woolfson Eye Institute, Atlanta, Georgia, USA., Kim EK; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.; Department of Ophthalmology, Saevit Eye Hospital, Goyang-Si, Korea.
Source: Ophthalmic genetics [Ophthalmic Genet] 2025 Oct; Vol. 46 (5), pp. 513-515. Date of Electronic Publication: 2025 Jun 24.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.
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  Data: <searchLink fieldCode="AU" term="%22Min+JS%22">Min JS</searchLink>; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+TI%22">Kim TI</searchLink>; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Shin+KJ%22">Shin KJ</searchLink>; Department of Forensic Medicine, Yonsei University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Choi+J%22">Choi J</searchLink>; Department of Ophthalmology, Saevit Eye Hospital, Goyang-Si, Korea.<br /><searchLink fieldCode="AU" term="%22Stulting+RD%22">Stulting RD</searchLink>; Woolfson Eye Institute, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Kim+EK%22">Kim EK</searchLink>; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.; Department of Ophthalmology, Saevit Eye Hospital, Goyang-Si, Korea.
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  Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2025 Oct; Vol. 46 (5), pp. 513-515. <i>Date of Electronic Publication: </i>2025 Jun 24.
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  Data: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1080/13816810.2025.2507085
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      – Code: eng
        Text: English
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              Text: 2025 Oct
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