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Article

Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.

American journal of medical genetics. Part A - 1 Nov 2020

Glaeser Andressa Barreto, Santos Andressa Schneiders, Diniz Bruna Lixinski, Deconte Desireé, Rosa Rafael Fabiano Machado, Zen Paulo Ricardo Gazzola

Abstract excerpt

Oculo-auriculo-vertebral spectrum (hemifacial microsomia/OAVS, OMIM #164210) is a heterogenous and congenital condition caused by a morphogenesis defect of the first and second pharyngeal arches. Etiology includes unknown genetic, environmental factors and chromosomal alterations, which 22q11.2 region is the most frequently reported. Several candidate genes for OAVS have been proposed; however, none has been...

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PMID: 32893956
DOI: 10.1002/ajmg.a.61841

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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