A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome
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DOI: 10.3892/mmr.2022.12647
Abstract: Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations of a patient with Okihiro syndrome and perform genetic testing on… read more here.
Keywords: okihiro syndrome; family; mutation sall4; sall4 chinese ... See more keywords