article_metadata: 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
article_metadata: 10.3389/fgene.2022.949437
article_metadata: Front Genet
article_metadata: 2022 Aug 16;13:949437.
article_metadata: abca4 gene stargardt disease ush2a gene usher syndrome retinal dystrophy uniparental disomy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36051698/
article_metadata: Case Reports
article_metadata: PMC9424670
article_metadata: 36051698
article_metadata: Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1
article_metadata: 2022