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Article

Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

28 Jan 2019

Abstract excerpt

BACKGROUND: Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic mutations or genes have been identified in microtia-atresia patients. METHODS: We designed a panel of 131 genes associated with external/middle or inner ear deformity. Targeted genomic capturing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30691450
DOI: 10.1186/s12920-019-0475-x

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