Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral...
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
About this item
Full title
Author / Creator
Guida, Valentina , Calzari, Luciano , Fadda, Maria Teresa , Piceci-Sparascio, Francesca , Digilio, Maria Cristina , Bernardini, Laura , Brancati, Francesco , Mattina, Teresa , Melis, Daniela , Forzano, Francesca , Briuglia, Silvana , Mazza, Tommaso , Bianca, Sebastiano , Valente, Enza Maria , Salehi, Leila Bagherjad , Prontera, Paolo , Pagnoni, Mario , Tenconi, Romano , Dallapiccola, Bruno , Iannetti, Giorgio , Corsaro, Luigi , De Luca, Alessandro and Gentilini, Davide
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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.
,
, and
gene variants were r...
Alternative Titles
Full title
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
Authors, Artists and Contributors
Author / Creator
Calzari, Luciano
Fadda, Maria Teresa
Piceci-Sparascio, Francesca
Digilio, Maria Cristina
Bernardini, Laura
Brancati, Francesco
Mattina, Teresa
Melis, Daniela
Forzano, Francesca
Briuglia, Silvana
Mazza, Tommaso
Bianca, Sebastiano
Valente, Enza Maria
Salehi, Leila Bagherjad
Prontera, Paolo
Pagnoni, Mario
Tenconi, Romano
Dallapiccola, Bruno
Iannetti, Giorgio
Corsaro, Luigi
De Luca, Alessandro
Gentilini, Davide
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7866060
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7866060
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms22031190
