A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth-Reference-Cited by-同舟云学术

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

Published:2021-02-08 Issue:5 Volume:99 Page:719-723
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Carli Diana¹^ORCID,Ferrero Giovanni Battista²^ORCID,Fusillo Anna¹,Coppo Paola³,La Selva Roberta³,Zinali Federica¹,Cardaropoli Simona¹^ORCID,Ranieri Carlotta⁴,Iacoviello Matteo⁴^ORCID,Resta Nicoletta⁴^ORCID,Mussa Alessandro¹^ORCID

Affiliation:

1. Pediatric Clinical Genetics Unit, Department of Public Health and Pediatric Sciences University of Torino and Regina Margherita Children's Hospital, Città della Salute e della Scienza Torino Italy

2. Department of Clinical and Biological Sciences University of Torino Torino Italy

3. Pediatric Dermatology Regina Margherita Children's Hospital, Città della Salute e della Scienza di Torino Torino Italy

4. Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics University of Bari “Aldo Moro” Bari Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13931

Reference18 articles.

1. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review

2. Exome sequencing reveals de novo germline mutation of the mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures;Smith L;J Genomes Exomes,2013

3. mTOR Signaling in Growth, Metabolism, and Disease

4. Brain somatic mutations in MTOR leading to focal cortical dysplasia

5. Germline and somatic mutations in theMTORgene in focal cortical dysplasia and epilepsy

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1. Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood;The Journal of Pediatrics;2024-11

2. Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior;Human Genetics and Genomics Advances;2024-10

3. Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children;Clinical Neurophysiology Practice;2024

4. Smith-Kingsmore Syndrome (SKS);Genetic Syndromes;2024

5. Smith-Kingsmore syndrome with nystagmus as the initial symptom;Acta Epileptologica;2023-10-13