A novel frameshift mutation of DVL1 ‐induced Robinow syndrome: A case report and literature review
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DOI: 10.1002/mgg3.1886
Abstract: Robinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome. read more here.
Keywords: mutation dvl1; robinow syndrome; novel frameshift; dvl1 induced ... See more keywords