Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

doi:10.1111/cge.13994

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Article

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Clinical genetics - 1 Sept 2021

Guida Valentina, Sparascio Francesca Piceci, Bernardini Laura, Pancheri Francesco, Melis Daniela, Cocciadiferro Dario, Pagnoni Mario, Puzzo Marianna, Goldoni Marina, Barone Chiara, Hozhabri Hossein, Putotto Carolina, Giuffrida Maria Grazia, Briuglia Silvana, Palumbo Orazio, Bianca Sebastiano, Stanzial Franco, Benedicenti Francesco, Kariminejad Ariana, Forzano Francesca, Baghernajad Salehi Leila, Mattina Teresa, Brancati Francesco, Castori Marco, Carella Massimo, Fadda Maria Teresa, Iannetti Giorgio, Dallapiccola Bruno, Digilio Maria Cristina, Marino Bruno, Tartaglia Marco, De Luca Alessandro

Abstract excerpt

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect. Chromosomal microarray analysis identified...

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PMID: 33988253
DOI: 10.1111/cge.13994

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