Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation

por López-Rubio, Salvador, Chacon-Camacho, Oscar F., Matsui, Rodrigo, Guadarrama-Vallejo, Dalia, Astiazarán, Mirena C., Zenteno, Juan C.
Publicado 2018

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

por Macriz-Romero, Nicole, Vera-Duarte, Guillermo Raul, Guerrero-Becerril, Jesus, Chacón-Camacho, Oscar Francisco, Astiazarán, Mirena C, Zenteno, Juan Carlos, Graue-Hernandez, Enrique O.
Publicado 2023