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

Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.

Pediatric blood & cancer - 1 Feb 2020

Manukjan Georgi, Wiegering Verena A, Reindl Tobias, Strauß Gabriele, Klopocki Eva, Schulze Harald, Andres Oliver

Abstract excerpt

Defects of platelet intracellular signaling can result in severe platelet dysfunction. Several mutations in each of the linked genes FERMT3 and RASGRP2 on chromosome 11 causing a Glanzmann-like bleeding phenotype have been identified so far. We report on novel variants in two unrelated pediatric patients with severe bleeding diathesis-one with leukocyte adhesion deficiency type III due to a homozygous frameshift...

Read the complete abstract on PubMed

Topics

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

Share to Blood Platelet Disorders
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine Nucleotide Exchange Factors

Share to Hemorrhagic Disorders

Share to Homozygote

Share to Membrane Proteins

Share to Neoplasm Proteins

Share to Prognosis

Source

Identifiers

PMID: 31724816
DOI: 10.1002/pbc.28078

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

Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.PMID 31724816Read ↗

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.Semantic proximity Read ↗

Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.Semantic proximity Read ↗

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunctionSemantic proximity Read ↗

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.Semantic proximity Read ↗

RasGRP2 Structure, Function and Genetic Variants in Platelet PathophysiologySemantic proximity Read ↗

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).Semantic proximity Read ↗

A splice mutation in RASGRP2 gene in the patient with recurrent epistaxis and nasal vascular malformation.Semantic proximity Read ↗

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2.Semantic proximity Read ↗

A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome.Semantic proximity Read ↗

Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.Semantic proximity Read ↗

LAD-1/variant syndrome is caused by mutations in FERMT3.Semantic proximity Read ↗

High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis.Semantic proximity Read ↗

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