A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
WFS1 gene
Wolfram syndrome
diabetes insipidus
diabetes mellitus
novel mutation
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
20
06
2019
revised:
01
09
2019
accepted:
15
09
2019
entrez:
2
1
2020
pubmed:
2
1
2020
medline:
2
1
2020
Statut:
epublish
Résumé
Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status-maintaining quality of life-are of crucial importance.
Identifiants
pubmed: 31893057
doi: 10.1002/ccr3.2494
pii: CCR32494
pmc: PMC6935624
doi:
Types de publication
Case Reports
Langues
eng
Pagination
2355-2357Informations de copyright
© 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
All authors declare no conflict of interest.
Références
Curr Opin Pediatr. 2012 Aug;24(4):512-7
pubmed: 22790102
Cell Death Dis. 2018 Mar 6;9(3):364
pubmed: 29511163
Clin Case Rep. 2019 Oct 23;7(12):2355-2357
pubmed: 31893057
J Neuroophthalmol. 2012 Dec;32(4):386-9
pubmed: 23196951
Proc Natl Acad Sci U S A. 2014 Dec 9;111(49):E5292-301
pubmed: 25422446
Diabetologia. 2009 Apr;52(4):653-63
pubmed: 19190890
Diabetes Care. 2011 Jul;34(7):1503-10
pubmed: 21602428
Case Rep Endocrinol. 2018 Apr 18;2018:9412676
pubmed: 29850290
Endocrinology. 2014 Mar;155(3):758-68
pubmed: 24424032
Curr Diab Rep. 2016 Jan;16(1):6
pubmed: 26742931
Indian J Pediatr. 2018 Jul;85(7):580-581
pubmed: 29455327
Diabetes Metab. 2015 Nov;41(5):433-5
pubmed: 26169481
Pediatr Res. 2018 May;83(5):921-929
pubmed: 29774890