Whole genome sequence analysis identifies a...

American Journal of Medical Genetics Part A 2020 / 08

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

Stevenson, Mark, Pagnamenta, Alistair T., Reichart, Silvia, Philpott, Charlotte, Lines, Kate E., Gorvin, Caroline M., Lhotta, Karl, Taylor, Jenny C., Thakker, Rajesh V.
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Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61814
Date:
August, 2020
File:
PDF, 1.38 MB
2020
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