A new case of Smith-Kingsmore syndrome with somatic MTOR

A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.

Carli D, Ferrero GB, Fusillo A, Coppo P, La Selva R, Zinali F, Cardaropoli S, Ranieri C, Iacoviello M, Resta N, Mussa A.

Clin Genet. 2021 May;99(5):719-723. doi: 10.1111/cge.13931. Epub 2021 Feb 8.

PMID: 33506498