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Article

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

European journal of medical genetics - 1 Feb 2012

Brun Aurore, Cailley Dorothée, Toutain Jérôme, Bouron Julie, Arveiler Benoit, Lacombe Didier, Goizet Cyril, Rooryck Caroline

Abstract excerpt

We report on a boy presenting with features of OAVS (Oculoauriculovertebral spectrum) and carrying a 1.5 Mb microdeletion in 15q24.1q24.2. This recurrent deletion usually leads to a broad clinical spectrum but has never been found associated with features of OAVS such as ear agenesis. This observation is in accordance with OAVS being a genetically heterogeneous disorder, and points out the importance of array-CGH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22198201
DOI: 10.1016/j.ejmg.2011.11.006

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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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