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Editorial
. 2018 Jun;29(6):1583-1584.
doi: 10.1681/ASN.2018040441. Epub 2018 May 16.

The Underestimated Burden of Monogenic Diseases in Adult-Onset ESRD

Emilie Cornec-Le Gall  1   2   3 , Peter C Harris  4
Affiliations
Editorial

The Underestimated Burden of Monogenic Diseases in Adult-Onset ESRD

Emilie Cornec-Le Gall et al. J Am Soc Nephrol. 2018 Jun.
No abstract available

Keywords: Adult ESRD; Molecular Diagnostics; NPHP.

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Comment on

  • NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
    Snoek R, van Setten J, Keating BJ, Israni AK, Jacobson PA, Oetting WS, Matas AJ, Mannon RB, Zhang Z, Zhang W, Hao K, Murphy B, Reindl-Schwaighofer R, Heinzl A, Oberbauer R, Viklicky O, Conlon PJ, Stapleton CP, Bakker SJL, Snieder H, Peters EDJ, van der Zwaag B, Knoers NVAM, de Borst MH, van Eerde AM. Snoek R, et al. J Am Soc Nephrol. 2018 Jun;29(6):1772-1779. doi: 10.1681/ASN.2017111200. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654215 Free PMC article.

References

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    1. ERA-EDTA: Annual Report of the ERA-EDTA, 2015. Available at: https://www.era-edta-reg.org/files/annualreports/pdf/AnnRep2015.pdf. Accessed April 25, 2018.
    1. Snoek R, van Setten J, Keating BJ, Israni AK, Jacobson PA, Oetting WS, et al. : NPHP1 (Nephrocystin-1) gene deletions cause adult-onset ESRD. J Am Soc Nephrol 29: 1772–1779, 2018 - PMC - PubMed
    1. Hildebrandt F, Zhou W: Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 18: 1855–1871, 2007 - PubMed
    1. Stokman M, Lilien M, Knoers N: Nephronophthisis. In: GeneReviews, edited by Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, University of Washington, Seattle, WA, 2016 - PubMed