Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

doi:10.3390/ijms22031190

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Article

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

International journal of molecular sciences - 26 Jan 2021

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, Gentilini Davide

Abstract excerpt

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. MYT1, AMIGO2, and ZYG11B gene variants were reported in a few OAVS patients, but the etiology remains...

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PMID: 33530447
DOI: 10.3390/ijms22031190
PMCID: PMC7866060

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