Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics (clinical),Neurology (clinical)
Reference7 articles.
1. Smith-Kingsmore syndrome: a third family with the MTOR mutation C.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism;Moosa;Am J Med Genet A,2016
2. Exome sequencing reveals de novo germline mutation of the mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures;Smith;J Genomes Exomes,2013
3. Germline and somatic mutations in theMTORgene in focal cortical dysplasia and epilepsy
4. mTOR signaling at a glance
5. A germline MTOR mutation in aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces;Baynam;Am J Med Genet A,2015
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1. Semaglutide as a potential treatment for obesity in Smith-Kingsmore syndrome (SKS) patients: A mosaic mutation case report;Obesity Research & Clinical Practice;2024-03
2. Smith-Kingsmore syndrome with nystagmus as the initial symptom;Acta Epileptologica;2023-10-13
3. Расстройства аутистического спектра: в поисках призмы для разделения на отдельные подтипы, "Природа";Priroda;2023
4. Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c. 5395G > A p.( Glu1799Lys ) missense variant;American Journal of Medical Genetics Part A;2021-05-25
5. A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth;Clinical Genetics;2021-02-08
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