A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
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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… read more here.
Keywords: kingsmore syndrome; lateralized overgrowth; smith kingsmore; pathogenic variant ... See more keywords