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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
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Original Articles
Online adgang: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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