Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.
ATR-X syndrome
ATRX
XLID
chromatin remodelers
neurodevelopment disorders
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
04 10 2022
04 10 2022
Historique:
received:
15
09
2022
revised:
30
09
2022
accepted:
02
10
2022
entrez:
27
10
2022
pubmed:
28
10
2022
medline:
29
10
2022
Statut:
epublish
Résumé
ATR-X syndrome is a rare X-linked congenital disorder caused by hypomorphic mutations in the
Identifiants
pubmed: 36292677
pii: genes13101792
doi: 10.3390/genes13101792
pmc: PMC9601810
pii:
doi:
Substances chimiques
X-linked Nuclear Protein
EC 3.6.4.12
DNA Helicases
EC 3.6.4.-
Nuclear Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
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