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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Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
Main Authors: Zamariolli, Malú, Colovati, Mileny, Moysés‐Oliveira, Mariana, Nunes, Natália, Caires dos Santos, Leonardo, Alvarez Perez, Ana B., Bragagnolo, Silvia, Melaragno, Maria Isabel
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acceso en liña: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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