Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
NGS
NSD1
Sotos syndrome
variants of uncertain significance
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
22 01 2023
22 01 2023
Historique:
received:
16
12
2022
revised:
17
01
2023
accepted:
18
01
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the
Identifiants
pubmed: 36833222
pii: genes14020295
doi: 10.3390/genes14020295
pmc: PMC9956575
pii:
doi:
Substances chimiques
Histone Methyltransferases
EC 2.1.1.-
TCF20 protein, human
0
Transcription Factors
0
PPP2R5D protein, human
0
Protein Phosphatase 2
EC 3.1.3.16
NSD1 protein, human
EC 2.1.1.43
Histone-Lysine N-Methyltransferase
EC 2.1.1.43
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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