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. |
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| 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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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes16010076 |
