De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA

Background: Mutations of the transforming growth factor-β-induced (TGFBI) gene produce various types of corneal dystrophy. Here, we report a novel de novo L509P mutation not located in a known hot spot of the transforming growth factor-β-induced (TGFBI) gene and its clinical phenotype, which resembl...

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Detalles Bibliográficos
Autores principales: Ji, Yong Woo, Ahn, Hyunmin, Shin, Kyoung-Jin, Kim, Tae-im, Seo, Kyoung Yul, Stulting, R. Doyle, Kim, Eung Kweon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9181583/
https://www.ncbi.nlm.nih.gov/pubmed/35683443
http://dx.doi.org/10.3390/jcm11113055

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9181583/
https://www.ncbi.nlm.nih.gov/pubmed/35683443
http://dx.doi.org/10.3390/jcm11113055

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