Ontology highlight
ABSTRACT:
SUBMITTER: Zamariolli M
PROVIDER: S-EPMC6785430 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Zamariolli Malú M Colovati Mileny M Moysés-Oliveira Mariana M Nunes Natália N Caires Dos Santos Leonardo L Alvarez Perez Ana B AB Bragagnolo Silvia S Melaragno Maria Isabel MI
Molecular genetics & genomic medicine 20190830 10
<h4>Background</h4>Oculo-auriculo-vertebral spectrum (OAVS) is a craniofacial developmental disorder that affects structures derived from the first and second pharyngeal arches. The clinically heterogeneous phenotype involves mandibular, oral, and ear development anomalies. Etiology is complex and poorly understood. Genetic factors have been associated, evidenced by chromosomal abnormalities affecting different genomic regions and genes. However, known pathogenic single-nucleotide variants (SNVs ...[more]