ADPKD
ciliopathy
epistatic effect
nephronophthisis
polycystic kidney disease
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
received:
01
09
2018
revised:
28
10
2018
accepted:
08
11
2018
entrez:
9
3
2019
pubmed:
9
3
2019
medline:
9
3
2019
Statut:
epublish
Résumé
We report a patient with adult-onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of
Identifiants
pubmed: 30847201
doi: 10.1002/ccr3.1947
pii: CCR31947
pmc: PMC6389502
doi:
Types de publication
Case Reports
Langues
eng
Pagination
336-339Déclaration de conflit d'intérêts
None declared.
Références
Front Pediatr. 2018 Jan 05;5:287
pubmed: 29379777
Ir J Med Sci. 2016 Aug;185(3):589-595
pubmed: 26037636
J Am Soc Nephrol. 2007 Oct;18(10):2789-95
pubmed: 17855640
J Am Soc Nephrol. 2007 May;18(5):1566-75
pubmed: 17409309
Nephrol Dial Transplant. 2006 Sep;21(9):2660-3
pubmed: 16782989
Cold Spring Harb Perspect Biol. 2017 Mar 1;9(3):
pubmed: 27793968
Hum Genet. 2013 Aug;132(8):865-84
pubmed: 23559409
J Am Soc Nephrol. 2009 Jan;20(1):23-35
pubmed: 19118152
PLoS One. 2014 Aug 18;9(8):e104281
pubmed: 25133751
Clin Exp Nephrol. 2013 Jun;17(3):317-26
pubmed: 23192769
Clin Case Rep. 2019 Jan 09;7(2):336-339
pubmed: 30847201
J Clin Invest. 2005 Apr;115(4):910-8
pubmed: 15761494
Nat Genet. 2010 Feb;42(2):175-80
pubmed: 20081859
Kidney Int. 1997 Jan;51(1):261-9
pubmed: 8995741
J Am Soc Nephrol. 2018 Jun;29(6):1772-1779
pubmed: 29654215
J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):83-9
pubmed: 21694639
Pediatr Nephrol. 2011 Feb;26(2):181-94
pubmed: 20652329
Am J Hum Genet. 2000 Mar;66(3):778-89
pubmed: 10712196
Nature. 2006 Jan 19;439(7074):326-30
pubmed: 16327777
PLoS One. 2010 Sep 14;5(9):e12719
pubmed: 20856870
Hum Mol Genet. 2003 Jul 15;12(14):1651-9
pubmed: 12837689
Science. 2001 Sep 21;293(5538):2256-9
pubmed: 11567139
Clin Genet. 2018 Jul;94(1):125-131
pubmed: 29520754
Pediatr Nephrol. 2011 Jun;26(6):967-71
pubmed: 21258817
Eur J Med Genet. 2017 Jun;60(6):321-325
pubmed: 28392475