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Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
We investigated the clinical and genetic features of patients with severe phenotype of granular corneal dystrophy type 2 (GCD2) associated with compound heterozygosity in the transforming growth factor-β-induced (TGFBI) gene. Patients with severe GCD2 underwent ophthalmic examination (best-corrected...
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| 出版年: | Sci Rep |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group UK
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7997986/ https://ncbi.nlm.nih.gov/pubmed/33772078 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-86414-9 |
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