Smith-Kingsmore Syndrome (SKS)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_98-1
Reference9 articles.
1. Carli D, Ferrero GB, Fusillo A et al (2021) A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Clin Genet 99:719–723. https://doi.org/10.1111/cge.13931
2. Everett TR, English S, Schirwani S et al (2022) EP09.10: antenatal diagnosis of Smith-Kingsmore syndrome. Ultrasound Obstet Gynecol 60:123. https://doi.org/10.1002/uog.25342
3. Fischer KE, Gelfond JAL, Soto VY et al (2015) Health effects of long-term rapamycin treatment: the impact on mouse health of enteric rapamycin treatment from four months of age throughout life. PLoS One 10:1–18. https://doi.org/10.1371/journal.pone.0126644
4. Gordo G, Tenorio J, Arias P et al (2018) mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review. Clin Genet 93:762–775. https://doi.org/10.1111/cge.13135
5. Liu AC, Shen Y, Roman D, et al (2022) Detailed clinical and functional studies of new MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian and sleep homeostasis. medRxiv. https://doi.org/10.1101/2022.02.15.22269076
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