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Article

Kidney failure in Bardet-Biedl syndrome.

Clinical genetics - 1 Apr 2022

Meyer Jennifer R, Krentz Anthony D, Berg Richard L, Richardson Jesse G, Pomeroy Jeremy, Hebbring Scott J, Haws Robert M

Abstract excerpt

The aim of this study was to explore kidney failure (KF) in Bardet-Biedl syndrome (BBS), focusing on high-risk gene variants, demographics, and morbidity. We employed the Clinical Registry Investigating BBS (CRIBBS) to identify 44 (7.2%) individuals with KF out of 607 subjects. Molecularly confirmed BBS was identified in 37 KF subjects and 364 CRIBBS registrants. KF was concomitant with recessive causal variants...

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Identifiers

PMID: 35112343
DOI: 10.1111/cge.14119
PMCID: PMC9311438

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