Condition: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES


rs200826424 in RCBTB1 gene and RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES PMID 27486781 2016 Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.