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

Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.

Human genetics - 1 May 2000

Kelley M J, Jawien W, Lin A, Hoffmeister K, Pugh E W, Doheny K F, Korczak J F

Abstract excerpt

Macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is a rare autosomal dominant disorder characterized by thrombocytopenia, giant platelets, and Döhle body-like inclusions in leukocytes. To determine the genetic basis of this disorder, we performed a genome-wide screen for linkage in three families with May-Hegglin anomaly. For the pooled analysis of the three families, three markers on...

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 Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genetic Markers

Share to Inclusion Bodies

Share to Leukocytes

Share to Lod Score

Share to Thrombocytopenia

Source

Identifiers

PMID: 10914687
DOI: 10.1007/s004390000294

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

Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.PMID 10914687Read ↗

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).Semantic proximity Read ↗

Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.Semantic proximity Read ↗

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.Semantic proximity Read ↗

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

Historical hematology: May–Hegglin anomalySemantic proximity Read ↗

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Semantic proximity Read ↗

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia.Semantic proximity Read ↗

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.Semantic proximity Read ↗

Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.Semantic proximity Read ↗

MYH-9 Related Platelet Disorders: Strategies for Management and DiagnosisSemantic proximity Read ↗

A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiologySemantic proximity Read ↗

[May-Hegglin anomaly--from genome research to clinical laboratory].Semantic proximity Read ↗

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