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

[Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].

Zhonghua yi xue za zhi - 27 Aug 2024

Zou Z J, Hong S F, Zhang Z H, Lin S Q, Zeng L Y, Jiang X Y, Chen B L, Ren J

Abstract excerpt

This study reported a family of MLH1 mutation-induced Muir-Torre syndrome (MTS) and evaluated it's clinical and genetic characteristics. A 51 year-old patient with extraorbital cystic sebaceous and colon adenocarcinoma diagnosed in November 2021 in Zhongshan Hospital of Xiamen University was included. The clinical data of the family were collected and a pedigree chart was drawn, which was in line with the Chinese...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Exons
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MutL Protein Homolog 1

Share to Pedigree

Source

Identifiers

PMID: 39168847
DOI: 10.3760/cma.j.cn112137-20240702-01481

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].PMID 39168847Read ↗

[Clinical characterization and genetic analysis of two Chinese pedigrees affected with Familial adenomatous polyposis caused by variants of MUTYH gene].Semantic proximity Read ↗

[Clinical features and gene mutation analysis of patients with Alagille syndrome].Semantic proximity Read ↗

New variant in KITLG shapes the pathogenesis of familial progressive hyper- and hypo-pigmentation.Semantic proximity Read ↗

[Muir-Torre syndrome with previously undescribed frameshift mutation in the MSH2 gene].Semantic proximity Read ↗

[Analysis of novel mutations in the SLC12A3 gene of a family with Gitelman syndrome].Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a case of ciliopathy caused by novel WDR19 gene variants].Semantic proximity Read ↗

Molecular Pathologic Analysis Enhances the Diagnosis and Management of Muir-Torre Syndrome and Gives Insight Into Its Underlying Molecular PathogenesisSemantic proximity Read ↗

[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].Semantic proximity Read ↗

[Gene analysis and clinical features of MYH9-related disease].Semantic proximity Read ↗

[Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].Semantic proximity Read ↗

De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).Semantic proximity Read ↗

Next-generation sequencing identifies high frequency of mutations in potentially clinically actionable genes in sebaceous carcinoma.Semantic proximity Read ↗

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