Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
DNA-methylation
OAVS
genome-wide
infinium human methylation 450K beadchip
oculo-auriculo-vertebral spectrum
retinoic acid
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
26 Jan 2021
26 Jan 2021
Historique:
received:
27
12
2020
revised:
20
01
2021
accepted:
21
01
2021
entrez:
3
2
2021
pubmed:
4
2
2021
medline:
14
4
2021
Statut:
epublish
Résumé
Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype is extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular defects, and vertebral malformations being the main features.
Identifiants
pubmed: 33530447
pii: ijms22031190
doi: 10.3390/ijms22031190
pmc: PMC7866060
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : This research was funded by the Italian Ministry of Health
ID : RC2019, and RC2020 to A.D.L.
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