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

[Constitutional mismatch repair deficiency syndrome].

Nederlands tijdschrift voor geneeskunde - 1 Jan 2015

Jongmans Marjolijn C, Gidding Corrie E, Loeffen Jan, Wesseling Pieter, Mensenkamp Arjen, Hoogerbrugge Nicoline

Abstract excerpt

BACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. CASE DESCRIPTION: An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin...

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 Child
Share to Colorectal Neoplasms

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Fatal Outcome

Share to Lymphoma, Non-Hodgkin

Share to Neoplasms, Multiple Primary

Share to Neoplastic Syndromes, Hereditary

Source

Identifiers

PMID: 26200421

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

[Constitutional mismatch repair deficiency syndrome].PMID 26200421Read ↗

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.Semantic proximity Read ↗

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.Semantic proximity Read ↗

Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low‐resource settingsSemantic proximity Read ↗

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.Semantic proximity Read ↗

Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.Semantic proximity Read ↗

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

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical managementSemantic proximity Read ↗

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

Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature.Semantic proximity Read ↗

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).Semantic proximity Read ↗

Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome.Semantic proximity Read ↗

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