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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
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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785430/
https://www.ncbi.nlm.nih.gov/pubmed/31469246
http://dx.doi.org/10.1002/mgg3.959