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

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Bibliographic Details
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
Description
ISSN:1744-5094
DOI:10.1080/13816810.2025.2507085