Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)
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DOI: 10.1002/mgg3.959
Abstract: 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… read more here.
Keywords: auriculo vertebral; single nucleotide; vertebral spectrum; spectrum oavs ... See more keywords