Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome Associated with Macrothrombocytopenia

Congenital thrombocytopenias are a diverse range of diseases. Of them, Glanzmann thrombasthenia is an autosomal recessive platelet aggregation disorder due to defect in the alpha IIb/beta3 integrins, coded by the ITGA2B and ITGB3 genes. While most patients with mutations in the ITGA2B and ITGB3 gene...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Abdulrhman Ibrahim Alathaibi, Muhammad Matloob Alam, Mohammed Kamal, Mohamed Refai, Faisal Alosaimi, Omar Allehyani, Nojood Althubaity
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wolters Kluwer Medknow Publications 2024-09-01
coleção:	Journal of Applied Hematology
Assuntos:	bleeding disorders glanzmann thrombasthenia itgb3 macro thrombocytopenia
Acesso em linha:	https://journals.lww.com/10.4103/joah.joah_67_24
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!