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Article

Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.

Klinische Padiatrie - 1 May 2010

Vannier C, Behnisch W, Bartsch I, Sandrock K, Ertle F, Schmidt K, Busse A, Superti-Furga A, Kulozik A, Santoso S, Zieger B

Abstract excerpt

BACKGROUND: Glanzmann's thrombasthenia (GT), is a rare autosomal recessive bleeding disorder. Platelets from patients with GT show quantitative or qualitative defects of the platelet membrane glycoprotein (GP) IIb/IIIa complex. A variety of genetic defects in ITGA2B and ITGB3 (genes for GPIIb and GPIIIa) has been described causing the clinical entity of GT. PATIENTS: A newborn with bleeding symptoms (petechiae)...

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Source

Identifiers

PMID: 20514618
DOI: 10.1055/s-0030-1249064

Genes

ITGB3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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