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Article

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.

Cytogenetic and genome research - 1 Jan 2015

Colovati Mileny E S, Bragagnolo Silvia, Guilherme Roberta S, Dantas Anelisa G, Soares Maria F, Kim Chong A, Perez Ana B A, Melaragno Maria I

Abstract excerpt

The oculo-auriculo-vertebral spectrum (OAVS) is defined as a group of malformations involving the ears, mouth, mandible, eyes, and cervical spine. Establishing an accurate clinical diagnosis of OAVS is a challenge for clinical geneticists, not only because these patients display heterogeneous phenotypes, but also because its etiology encompasses environmental factors, unknown genetic factors and different...

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PMID: 26919065
DOI: 10.1159/000444228

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