Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

BACKGROUND: 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 u...

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Publicado en:Mol Genet Genomic Med
Autores principales: Zamariolli, Malú, Colovati, Mileny, Moysés‐Oliveira, Mariana, Nunes, Natália, Caires dos Santos, Leonardo, Alvarez Perez, Ana B., Bragagnolo, Silvia, Melaragno, Maria Isabel
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6785430/
https://ncbi.nlm.nih.gov/pubmed/31469246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.959
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