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

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia.

British journal of haematology - 1 Oct 2021

Collins Janine, Astle William J, Megy Karyn, Mumford Andrew D, Vuckovic Dragana

Abstract excerpt

Low platelet count, or thrombocytopenia, is a common haematological abnormality, with a wide differential diagnosis, which may represent a clinically significant underlying pathology. Macrothrombocytopenia, the presence of large platelets in combination with thrombocytopenia, can be acquired or hereditary and indicative of a complex disorder. In this review, we discuss the interpretation of platelet count and...

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 Cell Size
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Multifactorial Inheritance

Share to Platelet Count

Share to Thrombocytopenia

Share to Transcription Factors

Source

Identifiers

PMID: 33783834
DOI: 10.1111/bjh.17409

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

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia.PMID 33783834Read ↗

Progress in understanding the diagnosis and molecular genetics of macrothrombocytopeniasSemantic proximity Read ↗

Inherited thrombocytopenias: history, advances and perspectivesSemantic proximity Read ↗

The genetics of platelet count and volume in humansSemantic proximity Read ↗

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.Semantic proximity Read ↗

Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With BleedingSemantic proximity Read ↗

Update on the inherited platelet disorders.Semantic proximity Read ↗

Clonal hematopoietic mutations linked to platelet traits and the risk of thrombosis or bleeding.Semantic proximity Read ↗

Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and managementSemantic proximity Read ↗

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.Semantic proximity Read ↗

Inherited platelet disorders: toward DNA-based diagnosisSemantic proximity Read ↗

Learning the Ropes of Platelet Count Regulation: Inherited ThrombocytopeniasSemantic proximity Read ↗

Genetics of inherited thrombocytopeniasSemantic proximity Read ↗

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