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

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report.

BMC medical genomics - 12 Jul 2021

Tan Shiqing, Wu Xiaoting, Wang Aoxue, Ying Li

Abstract excerpt

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2. CASE PRESENTATION: We reported a unique case of an 11-year-old Chinese girl with colorectal polyposis and café-au-lait macules who had no obvious family history of Lynch syndrome-associated tumors, followed by brain...

Read the complete abstract on PubMed

Topics

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

Share to Brain Neoplasms
Share to Cafe-au-Lait Spots
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms

Share to DNA Repair Enzymes

Share to Homozygote

Share to Mismatch Repair Endonuclease PMS2

Share to Neoplastic Syndromes, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 34247610
DOI: 10.1186/s12920-021-01031-9
PMCID: PMC8274000

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

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report.PMID 34247610Read ↗

Case report: a glioma patient diagnosed as constitutional mismatch repair deficiency syndrome (CMMRD) with a de novo germline variant in PMS2Semantic proximity Read ↗

Pitfalls in the diagnosis of biallelic PMS2 mutations.Semantic proximity Read ↗

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?Semantic proximity Read ↗

The changing landscape of Lynch syndrome due to PMS2 mutations.Semantic proximity Read ↗

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)Semantic proximity Read ↗

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].Semantic proximity Read ↗

Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.Semantic proximity Read ↗

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.Semantic proximity Read ↗

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.Semantic proximity Read ↗

Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.Semantic proximity Read ↗

Characteristics of colorectal carcinoma patients with PMS2 defects detected by immunohistochemistrySemantic proximity Read ↗

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.Semantic proximity Read ↗

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