Clinical spectrum and prognosis of atypical autosomal dominant polycystic kidney disease caused by monoallelic pathogenic variants of IFT140

Zagorec, N., Calamel, A., Delaporte, M. et al. (24 more authors) (2024) Clinical spectrum and prognosis of atypical autosomal dominant polycystic kidney disease caused by monoallelic pathogenic variants of IFT140. American Journal of Kidney Diseases. ISSN 0272-6386

Abstract

Metadata

Item Type: Article
Authors/Creators:
  • Zagorec, N.
  • Calamel, A.
  • Delaporte, M.
  • Olinger, E.
  • Orr, S.
  • Sayer, J.A.
  • Pillay, V.-G.
  • Denommé-Pichon, A.S.
  • Mau-Them, F.T.
  • Nambot, S.
  • Faivre, L.
  • Ars, E.
  • Torra, R.
  • Ong, A.C.M. ORCID logo https://orcid.org/0000-0002-7211-5400
  • Devuyst, O.
  • Perico, N.
  • Després, A.M.
  • Lemoine, H.
  • de Fallois, J.
  • Brousse, R.
  • Hummel, A.
  • Knebelmann, B.
  • Maisonneuve, N.
  • Halbritter, J.
  • Le Meur, Y.
  • Audrézet, M.-P.
  • Cornec-Le Gall, E. ORCID logo https://orcid.org/0000-0003-1958-4459
Copyright, Publisher and Additional Information:

© 2024 The Authors. Except as otherwise noted, this author-accepted version of a journal article published in American Journal of Kidney Diseases is made available via the University of Sheffield Research Publications and Copyright Policy under the terms of the Creative Commons Attribution 4.0 International License (CC-BY 4.0), which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/

Keywords: ADPKD-like spectrum; IFT140; autosomal dominant polycystic kidney disease (ADPKD); case series; inherited kidney diseases; kidney function; loss of function variants; monoallelic IFT140-variants; polycystic kidney disease
Dates:
  • Published: 26 December 2024
  • Published (online): 26 December 2024
  • Accepted: 16 October 2024
  • Submitted: 8 April 2024
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
Depositing User: Symplectic Sheffield
Date Deposited: 29 Jan 2025 11:24
Last Modified: 29 Jan 2025 11:24
Status: Published
Publisher: Elsevier BV
Refereed: Yes
Identification Number: 10.1053/j.ajkd.2024.10.009
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Open Archives Initiative ID (OAI ID):

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