Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

Stevenson M., Pagnamenta AT., Reichart S., Philpott C., Lines KE., Gorvin CM., Lhotta K., Taylor JC., Thakker RV.

DOI

10.1002/ajmg.a.61814

Type

Journal article

Journal

American Journal of Medical Genetics Part A

Publisher

Wiley

Publication Date

11/2020

Volume

182

Pages

2521 - 2528

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