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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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Detalles Bibliográficos
Autores principales:	Jun, Ikhyun, Ji, Yong Woo, Choi, Seung-il, Lee, Bo Ram, Min, Ji Sang, Kim, Eung Kweon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997986/ https://www.ncbi.nlm.nih.gov/pubmed/33772078 http://dx.doi.org/10.1038/s41598-021-86414-9

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