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

A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I.

Cancer prevention research (Philadelphia, Pa.) - 1 Apr 2021

Hicks Stephanie R, Cozart Amanda K, Bellus Gary A, Schneider Kami W

Abstract excerpt

While most individuals with a clinical diagnosis of Neurofibromatosis type 1 (NF1) have a detectable pathogenic variant in the NF1 gene, other conditions have phenotypic features overlapping with NF1. Without molecular confirmation, individuals may be misdiagnosed and have a different underlying condition. Namely, if a child has constitutional mismatch repair deficiency (CMMRD), early detection and prevention...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers, Tumor
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Follow-Up Studies

Share to Genetic Testing

Share to Infant

Share to Neurofibromatosis 1

Share to Prognosis

Source

Identifiers

PMID: 33431377
DOI: 10.1158/1940-6207.CAPR-20-0373

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I.PMID 33431377Read ↗

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancySemantic proximity Read ↗

Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrumsSemantic proximity Read ↗

Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Semantic proximity Read ↗

Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.Semantic proximity Read ↗

Neurofibromatosis type I: points to be considered by general pediatriciansSemantic proximity Read ↗

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.Semantic proximity Read ↗

Effect of implementation of a clinical checklist on the evaluation of constitutional mismatch repair deficiency in a neurofibromatosis clinicSemantic proximity Read ↗

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.Semantic proximity Read ↗

Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patientsSemantic proximity Read ↗

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?Semantic proximity Read ↗

Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective.Semantic proximity Read ↗

Neurofibromatosis 1 in childhood.Semantic proximity Read ↗

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