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

NBEAL2 gene mutations do not always lead to gray platelet syndrome: A case report.

Medicine - 4 Oct 2024

Chen Bing, Kong Wanzhong, Liu Jinlin, Zhang Junwu

Abstract excerpt

RATIONALE: Gray platelet syndrome (GPS) is a rare disease caused by homozygosity and compound heterozygosity for autosomal mutations on the NBEAL2 gene, which is characterized by a deficiency of platelet α-granules, bleeding symptoms. However, in this study, we report 2 NBEAL2 gene mutations in an easy bruising family without gray platelet and bleeding. PATIENT CONCERNS: A 33-year-old female nurse sought...

Read the complete abstract on PubMed

Topics

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

Share to Blood Platelets
Share to Blood Proteins
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 39465716
DOI: 10.1097/MD.0000000000039975
PMCID: PMC11460870

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NBEAL2 gene mutations do not always lead to gray platelet syndrome: A case report.PMID 39465716Read ↗

Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis.Semantic proximity Read ↗

Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects.Semantic proximity Read ↗

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.Semantic proximity Read ↗

Gray platelet syndrome: Novel mutations of the NBEAL2 gene.Semantic proximity Read ↗

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromeSemantic proximity Read ↗

Novel manifestations of immune dysregulation and granule defects in gray platelet syndromeSemantic proximity Read ↗

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Semantic proximity Read ↗

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.Semantic proximity Read ↗

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndromeSemantic proximity Read ↗

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.Semantic proximity Read ↗

Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?Semantic proximity Read ↗

Inherited Platelet Function Disorders (IPFDs).Semantic proximity Read ↗

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