Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.

Autor: Irusteta, Leire1 (AUTHOR), Ramírez-Miranda, Arturo1 (AUTHOR), Navas-Pérez, Alejandro1 (AUTHOR), Montes-Almanza, Luis2 (AUTHOR), Arteaga, José1 (AUTHOR), García-Martínez, Froylán2 (AUTHOR), Graue-Hernández, Enrique1 (AUTHOR), Zenteno, Juan C.2,3 (AUTHOR) jczenteno@institutodeoftalmologia.org
Zdroj: Ophthalmic Genetics. Oct2022, Vol. 43 Issue 5, p589-593. 5p.
Databáze: Academic Search Ultimate
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