Pathogenicity Reclasssification of <i>RPE65</i> Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

by Fabiana L. Motta, Renan P. Martin, Fernanda B. O. Porto, Elizabeth S. Wohler, Rosane G. Resende, Caio P. Gomes, João B. Pesquero, Juliana M. F. Sallum
Published 2019-12-01

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

by Fernanda B. O. Porto, Evan M. Jones, Justin Branch, Zachry T. Soens, Igor Mendes Maia, Isadora F. G. Sena, Shirley A. M. Sampaio, Renata T. Simões, Rui Chen
Published 2017-11-01