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

[Clinical characteristics and genetic analysis of a Chinese pedigree affected with tuberous sclerosis complex].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2022

Chen Li, Li Gang, Zhang Chen, Jiao Meng, Li Xiaoyan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with tuberous sclerosis complex (TSC). METHODS: The TSC1 and TSC2 genes were sequenced. Candidate variant was verified by Sanger sequencing of the proband and her family members. Pathogenicity of the variant was predicted based on the American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: The proband was found to harbor...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acids
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 2 Protein

Source

Identifiers

PMID: 36317210
DOI: 10.3760/cma.j.cn511374-20211122-00928

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical characteristics and genetic analysis of a Chinese pedigree affected with tuberous sclerosis complex].PMID 36317210Read ↗

[Analysis of clinical features and genetic variants in a Chinese pedigree affected with tuberous sclerosis].Semantic proximity Read ↗

[Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex].Semantic proximity Read ↗

[Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex].Semantic proximity Read ↗

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.Semantic proximity Read ↗

[Analysis of TSC gene mutations in five patients with tuberous sclerosis complex].Semantic proximity Read ↗

[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].Semantic proximity Read ↗

TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy.Semantic proximity Read ↗

Identification of a de novo TSC2 variant in a Han-Chinese family with tuberous sclerosis complex.Semantic proximity Read ↗

A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex.Semantic proximity Read ↗

[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation].Semantic proximity Read ↗

[Genetic analysis and prenatal diagnosis for ten families affected with tuberous sclerosis complex].Semantic proximity Read ↗

[Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].Semantic proximity Read ↗

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