An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.
DIDMOAD
WFS1 mutations
atypical phenotype
wolfram syndrome 1
Journal
International journal of environmental research and public health
ISSN: 1660-4601
Titre abrégé: Int J Environ Res Public Health
Pays: Switzerland
ID NLM: 101238455
Informations de publication
Date de publication:
21 02 2022
21 02 2022
Historique:
received:
26
01
2022
revised:
15
02
2022
accepted:
17
02
2022
entrez:
25
2
2022
pubmed:
26
2
2022
medline:
11
3
2022
Statut:
epublish
Résumé
Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the
Identifiants
pubmed: 35206658
pii: ijerph19042473
doi: 10.3390/ijerph19042473
pmc: PMC8872384
pii:
doi:
Substances chimiques
Membrane Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
Nat Genet. 2007 Aug;39(8):951-3
pubmed: 17603484
J Biol Chem. 2005 Nov 25;280(47):39609-15
pubmed: 16195229
Diabetes Res Clin Pract. 2006 Aug;73(2):215-7
pubmed: 16442662
Curr Opin Pediatr. 2012 Aug;24(4):512-7
pubmed: 22790102
Hum Mol Genet. 2013 Jan 15;22(2):203-17
pubmed: 23035048
J Endocrinol Invest. 2014 Feb;37(2):195-202
pubmed: 24497219
Hum Mutat. 2003 Jun;21(6):622-9
pubmed: 12754709
Clin Genet. 2011 Feb;79(2):103-17
pubmed: 20738327
Hum Mol Genet. 2001 Mar 1;10(5):477-84
pubmed: 11181571
Lancet. 1995 Dec 2;346(8988):1458-63
pubmed: 7490992
Nat Genet. 1998 Oct;20(2):143-8
pubmed: 9771706
Hum Mutat. 2005 Jan;25(1):99-100
pubmed: 15605410
Ann Neurol. 2011 Mar;69(3):501-8
pubmed: 21446023
Genet Med. 2013 Jul;15(7):497-506
pubmed: 23429432
Curr Diab Rep. 2016 Jan;16(1):6
pubmed: 26742931
Mol Genet Metab. 2001 Jan;72(1):72-81
pubmed: 11161832
Hum Genet. 1998 Oct;103(4):470-4
pubmed: 9856492
Diabetologia. 2008 Mar;51(3):458-63
pubmed: 18040659
Pediatr Res. 2018 May;83(5):921-929
pubmed: 29774890
Neurol Genet. 2021 Mar 19;7(2):e578
pubmed: 33763535
Orphanet J Rare Dis. 2013 Apr 27;8:64
pubmed: 23981289
Neurology. 2013 May 7;80(19):1762-70
pubmed: 23596069