A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear
Küçük Resim Yok
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Lippincott Williams & Wilkins
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our knowledge, although intermittent thrombocytopenia is observed in this mutation, the coexistence of large thrombocytes is rarely seen. Here we present a case of severe congenital neutropenia type 4 with G6PC3 mutation and large platelets in the peripheral smear.
Açıklama
Anahtar Kelimeler
severe congenital neutropenia type 4, G6PC3 mutation, large platelets
Kaynak
Journal of Pediatric Hematology Oncology
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
38
Sayı
4
