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Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.
Clin Kidney J. 2020 Dec 6;14(6):1545-1551. doi: 10.1093/ckj/sfaa182. eCollection 2021 Jun.
Clin Kidney J. 2020.
PMID: 34084454
Free PMC article.
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M, Blanco FDV, Trepiccione F, Blasio G, Torella A, Melluso A, Capolongo G, Pollastro RM, Piluso G, Di Iorio V, Simonelli F, Viggiano D, Perna A, Nigro V, Capasso G.
Zacchia M, et al. Among authors: blanco fdv.
J Nephrol. 2021 Dec;34(6):1855-1874. doi: 10.1007/s40620-021-01048-4. Epub 2021 May 8.
J Nephrol. 2021.
PMID: 33964006
Free PMC article.
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