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

Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1 -Related Fanconi Anemia.

The neurologist - 1 Sept 2023

Nathoo Nabeela, Gavrilova Ralitza H, Trejo-Lopez Jorge A, McGarrah Patrick W, Go Ronald S, Alqallaf Abdulradha, Tobin W Oliver

Abstract excerpt

INTRODUCTION: Fanconi anemia (FA) is an inherited condition associated with genetic mutations that affect DNA repair proteins. More than 20 genes involved in the FA/BRCA pathway have been implicated in FA, including BRIP1 . Tumefactive brain lesions are rare in FA. CASE REPORT: We describe a patient with FA and recurrent tumefactive brain lesions preceded by calcifications on head computed tomography. A biopsy...

Read the complete abstract on PubMed

Topics

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

Share to Central Nervous System
Share to Fanconi Anemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 37582649
DOI: 10.1097/NRL.0000000000000511

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1 -Related Fanconi Anemia.PMID 37582649Read ↗

Biallelic <i>IRAK4</i> Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical PhenotypeSemantic proximity Read ↗

Neuroimaging Findings and Treatment Update for Neuroinflammation, Autoinflammation, Splenomegaly, and Anemia, a Novel Autoinflammatory Disorder Caused by Bi-Allelic Variants in IRAK4.Semantic proximity Read ↗

Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.Semantic proximity Read ↗

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.Semantic proximity Read ↗

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.Semantic proximity Read ↗

Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.Semantic proximity Read ↗

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.Semantic proximity Read ↗

Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.Semantic proximity Read ↗

Fasciitis-panniculitis syndrome with autoantibodies reacting to collagen fibers: A case reportSemantic proximity Read ↗

Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.Semantic proximity Read ↗

Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.Semantic proximity Read ↗

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.Semantic proximity Read ↗

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