5q deletion syndrome
KCNN2
array-CGH
intellectual disability
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
23 07 2023
23 07 2023
Historique:
received:
28
06
2023
revised:
19
07
2023
accepted:
21
07
2023
medline:
31
7
2023
pubmed:
29
7
2023
entrez:
29
7
2023
Statut:
epublish
Résumé
The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the
Identifiants
pubmed: 37510409
pii: genes14071505
doi: 10.3390/genes14071505
pmc: PMC10379344
pii:
doi:
Substances chimiques
Adenomatous Polyposis Coli Protein
0
Types de publication
Review
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
Cell Rep. 2015 Jan 13;10(2):148-61
pubmed: 25558065
Am J Hum Genet. 1992 May;50(5):988-97
pubmed: 1315124
Autism Res. 2016 Mar;9(3):340-9
pubmed: 26314684
Am J Med Genet. 1991 Dec 15;41(4):460-3
pubmed: 1776638
Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):
pubmed: 30262571
Mol Cell. 2005 Dec 22;20(6):905-15
pubmed: 16364915
J Hum Genet. 2006;51(2):141-146
pubmed: 16365682
Brain. 2020 Dec 1;143(12):3564-3573
pubmed: 33242881
Elife. 2016 Jan 26;5:
pubmed: 26812546
Am J Med Genet A. 2013 Apr;161A(4):916-7
pubmed: 23495102
Nature. 2012 Apr 04;485(7397):246-50
pubmed: 22495309
Neurosci Lett. 2017 Feb 22;641:70-76
pubmed: 28109776
Eur J Neurol. 2020 Aug;27(8):1471-1477
pubmed: 32212350
Clin Genet. 1985 Jan;27(1):105-9
pubmed: 3978836
Oncologist. 2011;16(12):1698-705
pubmed: 22135120
J Med Genet. 2000 Feb;37(2):141-5
pubmed: 10712105
Am J Gastroenterol. 2001 Oct;96(10):3016-20
pubmed: 11693343
Nat Commun. 2019 Sep 11;10(1):4112
pubmed: 31511512
Acta Biomed. 2020 Nov 09;91(13-S):e2020003
pubmed: 33170170
Hum Mol Genet. 2015 Jun 1;24(11):3172-80
pubmed: 25701870
Am J Med Genet A. 2011 Jun;155A(6):1437-41
pubmed: 21567930