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Article

Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.

American journal of medical genetics. Part A - 1 Jul 2021

Zamariolli Malú, Burssed Bruna, Moysés-Oliveira Mariana, Colovati Mileny, Bellucco Fernanda Teixeira da Silva, Dos Santos Leonardo Caires, Alvarez Perez Ana Beatriz, Bragagnolo Silvia, Melaragno Maria Isabel

Abstract excerpt

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by anomalies mainly involving the structures derived from the first and second pharyngeal arches. The spectrum presents with heterogeneous clinical features and complex etiology with genetic factors not yet completely understood. To date, MYT1 is the most important gene unambiguously associated with the spectrum and with functional...

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PMID: 33880880
DOI: 10.1002/ajmg.a.62217

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