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Article

Clinical and cytogenomic findings in OAV spectrum.

American journal of medical genetics. Part A - 1 Mar 2018

Bragagnolo Silvia, Colovati Mileny E S, Souza Malu Z, Dantas Anelise G, F de Soares Maria F, Melaragno Maria I, Perez Ana B

Abstract excerpt

The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia...

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PMID: 29368383
DOI: 10.1002/ajmg.a.38576

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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