Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia (American Journal of Medical Genetics Part A, 2020)

(untitled) - Stevenson, M; Pagnamenta, AT; Reichart, S; Philpott, C; Lines, KE; Gorvin, CM; Lhotta, K; Taylor, JC; Thakker, RV