New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome
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DOI: 10.1111/cge.13436
Abstract: To the Editor: We report a Hispanic female with significant delay in intellectual and motor development, microcephaly, hypotonia, deafness, congenital heart defects including a patent ductus arteriosus and a bicuspid aortic valve, and craniofacial features… read more here.
Keywords: variant patient; new smarce1; oculoauriculofrontonasal syndrome; features overlapping ... See more keywords