dc.contributor.author | Cihan, Meric Kaymak | |
dc.contributor.author | Bolat, Fatih | |
dc.contributor.author | Onay, Huseyin | |
dc.contributor.author | Sari, Ahmet | |
dc.contributor.author | Korgali, Elif Unver | |
dc.contributor.author | Aslan, Sukran | |
dc.contributor.author | Cura, Ceylan | |
dc.contributor.author | Icagasioglu, Dilara | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T09:45:35Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T09:45:35Z | |
dc.date.issued | 2016 | |
dc.identifier.issn | 1077-4114 | |
dc.identifier.issn | 1536-3678 | |
dc.identifier.uri | https://dx.doi.org/10.1097/MPH.0000000000000504 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/7363 | |
dc.description | WOS: 000375145200016 | en_US |
dc.description | PubMed ID: 26808373 | en_US |
dc.description.abstract | 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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | LIPPINCOTT WILLIAMS & WILKINS | en_US |
dc.relation.isversionof | 10.1097/MPH.0000000000000504 | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | severe congenital neutropenia type 4 | en_US |
dc.subject | G6PC3 mutation | en_US |
dc.subject | large platelets | en_US |
dc.title | A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear | en_US |
dc.type | article | en_US |
dc.relation.journal | JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | en_US |
dc.contributor.department | [Cihan, Meric Kaymak] Cumhuriyet Univ, Dept Pediat, Div Hematol & Oncol, Sivas, Turkey -- [Bolat, Fatih] Cumhuriyet Univ, Dept Pediat, Div Neonatol, Sivas, Turkey -- [Sari, Ahmet -- Korgali, Elif Unver -- Aslan, Sukran -- Cura, Ceylan -- Icagasioglu, Dilara] Cumhuriyet Univ, Dept Pediat, Fac Med, Sivas, Turkey -- [Onay, Huseyin] Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey | en_US |
dc.identifier.volume | 38 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.endpage | 328 | en_US |
dc.identifier.startpage | 324 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |