R Villafuerte-De la Cruz O F Chacon-Camacho A C Rodriguez-Martinez N Xilotl-De Jesus R Arce-Gonzalez C Rodriguez-De la Torre J E Valdez-Garcia A Rojas-Martinez J C Zenteno
10.3389/fgene.2022.949437
Front Genet
2022 Aug 16;13:949437.
abca4 gene stargardt disease ush2a gene usher syndrome retinal dystrophy uniparental disomy
CC BY
https://pubmed.ncbi.nlm.nih.gov/36051698/
Case Reports
PMC9424670
36051698
Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1
2022