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Compound Heterozygous p.(R124C) (Classic Lattice Corneal Dystrophy) and p.(R124H) (Granular Corneal Dystrophy Type 2) in TGFBI: Phenotype, Genotype, and Treatment.

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Title: Compound Heterozygous p.(R124C) (Classic Lattice Corneal Dystrophy) and p.(R124H) (Granular Corneal Dystrophy Type 2) in TGFBI: Phenotype, Genotype, and Treatment.
Authors: Min JS; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea., Kim TI; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea., Jun I; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea., Stulting RD; Woolfson Eye Institute, Atlanta, GA 30328, USA., Rho C; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea., Han SB; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea., Kim H; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea., Choi J; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea., Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea., Kim EK; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea.
Source: Genes [Genes (Basel)] 2025 Jan 11; Vol. 16 (1). Date of Electronic Publication: 2025 Jan 11.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Compound Heterozygous p.(R124C) (Classic Lattice Corneal Dystrophy) and p.(R124H) (Granular Corneal Dystrophy Type 2) in TGFBI: Phenotype, Genotype, and Treatment.
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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, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+TI%22">Kim TI</searchLink>; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jun+I%22">Jun I</searchLink>; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.; Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Stulting+RD%22">Stulting RD</searchLink>; Woolfson Eye Institute, Atlanta, GA 30328, USA.<br /><searchLink fieldCode="AU" term="%22Rho+C%22">Rho C</searchLink>; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Han+SB%22">Han SB</searchLink>; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+H%22">Kim H</searchLink>; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Choi+J%22">Choi J</searchLink>; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Han+J%22">Han J</searchLink>; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+EK%22">Kim EK</searchLink>; The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea.; Saevit Eye Hospital, Goyang-si 10447, Republic of Korea.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2025 Jan 11; Vol. 16 (1). <i>Date of Electronic Publication: </i>2025 Jan 11.
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      – TitleFull: Compound Heterozygous p.(R124C) (Classic Lattice Corneal Dystrophy) and p.(R124H) (Granular Corneal Dystrophy Type 2) in TGFBI: Phenotype, Genotype, and Treatment.
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              Text: 2025 Jan 11
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