Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-immune Hemolysis and Macrothrombocytopenia
Başak Bostankolu Değirmenci1, Hamza Polat21Ankara Atatürk Sanatoryum Training and Research Hospital, Clinic of Hematology, Ankara, Türkiye2Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Türkiye
Keywords: Sitosterolemia, hemolysis, ABCG5, macrothrombocytopenia
ABCG5 Geninde Bileşik Heterozigot Varyantlar ile Sitosterolemi: İmmün Olmayan Hemoliz ve Makrotrombositopeninin Nadir Bir Nedeni
Başak Bostankolu Değirmenci1, Hamza Polat21Ankara Atatürk Sanatoryum Training and Research Hospital, Clinic of Hematology, Ankara, Türkiye2Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Türkiye
Anahtar Kelimeler: Sitosterolemi, hemoliz, ABCG5, makrotrombositopeni
Corresponding Author: Başak Bostankolu Değirmenci
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