Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
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DOI: 10.1038/s41431-021-00865-2
Abstract: Here we report for the first time on the maternal transmission of mild Coffin–Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters with intellectual disability and muscular hypotonia born to non-consanguineous… read more here.
Keywords: maternal transmission; missense variant; coffin siris; mild coffin ... See more keywords