ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Whitney BesseAlex R ChangJonathan Z LuoWilliam J TriffoBryn S MooreAshima GulatiDustin N HartzelShrikant Manenull nullVicente E TorresStefan SomloTooraj MirshahiPublished in: Journal of the American Society of Nephrology : JASN (2019)
ALG9 is a novel disease gene in the genetically heterogeneous ADPKD spectrum. This study supports the utility of phenotype characterization in genetically-defined cohorts to validate novel disease genes, and provide much-needed genotype-phenotype correlations.