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
Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth
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DOI: 10.3389/fped.2020.613260
Abstract: Lateralized overgrowth (LO), or segmental overgrowth, is defined as an increase in growth of tissue (bone, muscle, connective tissue, vasculature, etc.) in any region of the body. Some overgrowth syndromes, characterized by both generalized and… read more here.
Keywords: lateralized overgrowth; tumor risk; genetic epigenetic; overgrowth ... See more keywords
Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients
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DOI: 10.3390/cancers15061872
Abstract: Simple Summary Lateralized overgrowth may be isolated or accompany syndromes. Recently, international BWS consensus proposed that the patients with isolated lateralized overgrowth and epigenetic change related to this syndrome should be evaluated within the Beckwith–Wiedemann… read more here.
Keywords: spectrum; risk; beckwith wiedemann; overgrowth ... See more keywords