Article
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
American journal of medical genetics. Part A - 1 Aug 2013
Ballesta-Martínez Maria Juliana, López-González Vanesa, Dulcet Lluis Armengol, Rodríguez-Santiago Benjamín, Garcia-Miñaúr Sixto, Guillen-Navarro Encarna
Abstract excerpt
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is characterized by anomalies derived from an abnormal development of the first and second branchial arches, with marked inter and intra-familial phenotypic variability. Main clinical features are defects on aural, oral, mandibular, and vertebral development. Cardiac, pulmonary, renal, skeletal, and central nervous system anomalies have also been described. Most...
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