A Novel MPIG6B Gene Variant Identified in a Patient with Congenital Thrombocytopenia from Turkey

Kılınç Oktay, Burcu; Durmaz, Burak; Çınar Özel, Simge; Ocak, Suheyla; Celkan, Tülin Tiraje

A Novel MPIG6B Gene Variant Identified in a Patient with Congenital Thrombocytopenia from Turkey [Turk J Hematol]

Turk J Hematol. Ahead of Print: TJH-85451 | DOI: 10.4274/tjh.galenos.2026.85451

A Novel MPIG6B Gene Variant Identified in a Patient with Congenital Thrombocytopenia from Turkey

Burcu Kılınç Oktay¹, Burak Durmaz², Simge Çınar Özel³, Suheyla Ocak³, Tülin Tiraje Celkan⁴
¹Afyonkarahisar Health Sciences University Faculty of Medicine, Department of Pediatric Hematology and Oncology, Afyonkarahisar, Türkiye
²Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Türkiye
³İstanbul University Cerrahpaşa-Cerrahpaşa Faculty of Medicine, Department of Pediatric Hematology and Oncology, İstanbul, Türkiye
⁴İstinye University Faculty of Medicine, Department of Pediatric Hematology and Oncology, İstanbul, Türkiye

Keywords: MPIG6B variant, congenital, thrombocytopenia, ruxolitinib

Türkiye’den Konjenital Trombositopenili Bir Hastada Saptanan Yeni Bir MPIG6B Gen Varyantı

Burcu Kılınç Oktay¹, Burak Durmaz², Simge Çınar Özel³, Suheyla Ocak³, Tülin Tiraje Celkan⁴
¹Afyonkarahisar Sağlık Bilimleri Üniversitesi Tıp Fakültesi, Çocuk Hematoloji ve Onkoloji Bilim Dalı, Afyonkarahisar
²Ege Üniversitesi Tıp Fakültesi, Tıbbi Genetik Ana Bilim Dalı, İzmir
³İstanbul Üniversitesi Cerrahpaşa- Cerrahpaşa Tıp fakültesi, Çocuk Hematoloji ve Onkoloji Bilim Dalı, İstanbul
⁴İstinye Üniversitesi Tıp Fakültesi, Çocuk Hematoloji ve Onkoloji Bilim Dalı, İstanbul

Anahtar Kelimeler: MPIG6B varyant, konjenital, trombositopeni, ruksolitinib

Corresponding Author: Burcu Kılınç Oktay, Türkiye
Manuscript Language: English

CITE

Full Text PDF Download citation RIS EndNote BibTex Medlars Procite Reference Manager Send email to author Similar articles PubMed Google Scholar