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Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13931
Abstract: Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by heterozygous germline activating pathogenic variants in mammalian target of rapamycin (MTOR) on chromosome 1p36. A few patients with disseminated mosaicism have been described so…
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Keywords:
kingsmore syndrome;
lateralized overgrowth;
smith kingsmore;
pathogenic variant ... See more keywords