3p25 microdeletion syndrome
KBG syndrome
MRD23
SETD5 haploinsufficiency
WES
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2020
2020
Historique:
received:
03
04
2020
accepted:
28
05
2020
entrez:
15
8
2020
pubmed:
15
8
2020
medline:
15
8
2020
Statut:
epublish
Résumé
Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 23 (MRD23) syndrome, due to
Identifiants
pubmed: 32793091
doi: 10.3389/fneur.2020.00631
pmc: PMC7393934
doi:
Types de publication
Journal Article
Langues
eng
Pagination
631Informations de copyright
Copyright © 2020 Crippa, Bestetti, Maitz, Weiss, Spano, Masciadri, Smithson, Larizza, Low, Cohen and Finelli.
Références
Biochem Biophys Res Commun. 2007 Jul 13;358(4):1034-40
pubmed: 17521611
Clin Genet. 2016 Jan;89(1):74-81
pubmed: 25652421
Am J Hum Genet. 2011 Aug 12;89(2):289-94
pubmed: 21782149
Am J Med Genet A. 2016 Sep;170(9):2322-7
pubmed: 27375234
Mol Syndromol. 2016 Oct;7(5):262-273
pubmed: 27867341
Brain Dev. 2016 Mar;38(3):285-92
pubmed: 26482601
Am J Med Genet A. 2017 Dec;173(12):3165-3171
pubmed: 28905509
Am J Hum Genet. 2010 May 14;86(5):749-64
pubmed: 20466091
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Hum Mol Genet. 2019 Nov 21;28(R2):R254-R264
pubmed: 31595951
Hum Genet. 2017 Mar;136(3):307-320
pubmed: 28120103
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Hum Genet. 2017 Aug;62(8):741-746
pubmed: 28250421
Nat Neurosci. 2018 Dec;21(12):1717-1727
pubmed: 30455454
Clin Genet. 2018 Apr;93(4):752-761
pubmed: 28881385
Genet Med. 2011 Jul;13(7):680-5
pubmed: 21681106
J Hum Genet. 2019 Oct;64(10):967-978
pubmed: 31337854
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Birth Defects Orig Artic Ser. 1975;11(5):7-18
pubmed: 1218237
Nat Protoc. 2015 Oct;10(10):1556-66
pubmed: 26379229
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Lancet. 2012 Nov 10;380(9854):1674-82
pubmed: 23020937
Am J Med Genet A. 2016 Nov;170(11):2835-2846
pubmed: 27667800
Eur J Hum Genet. 2015 Jun;23(6):753-60
pubmed: 25138099
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
Am J Hum Genet. 2014 Apr 3;94(4):618-24
pubmed: 24680889
Clin Genet. 2019 Feb;95(2):231-240
pubmed: 29672823
Dev Cell. 2015 Jan 12;32(1):31-42
pubmed: 25556659