Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Sept 2022

Lei H H, Liu L L, Wang X L, Tie X C, Tian N, Ji Y, Yang Ying

Abstract excerpt

Objective: To investigate the clinical manifestations and genetic features of 2 children with Smith-Kingsmore syndrome caused by MTOR gene variation and review the literature. Methods: The clinical data of 2 children carrying MTOR gene variant, diagnosed at Xi'an Children's Hospital from April 2018 to April 2021, were retrospectively summarized."MTOR"and"Smith-Kingsmore syndrome"were used as key words to search...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autism Spectrum Disorder
Share to Hypoglycemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Megalencephaly

Share to Muscle Hypotonia

Share to Mutation

Share to TOR Serine-Threonine Kinases

Source

Identifiers

PMID: 36038305
DOI: 10.3760/cma.j.cn112140-20220321-00226

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review].PMID 36038305Read ↗

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.Semantic proximity Read ↗

Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.Semantic proximity Read ↗

Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.Semantic proximity Read ↗

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

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.Semantic proximity Read ↗

[Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene].Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex].Semantic proximity Read ↗

[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].Semantic proximity Read ↗

[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].Semantic proximity Read ↗

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephalySemantic proximity Read ↗

[Genetic analysis of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 due to variant of PIGN gene].Semantic proximity Read ↗

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.