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Kidney failure in Bardet–Biedl syndrome

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...

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Detalles Bibliográficos
Autores principales: Meyer, Jennifer R., Krentz, Anthony D., Berg, Richard L., Richardson, Jesse G., Pomeroy, Jeremy, Hebbring, Scott J., Haws, Robert M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311438/
https://www.ncbi.nlm.nih.gov/pubmed/35112343
http://dx.doi.org/10.1111/cge.14119