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Article

A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.

Journal of pediatric hematology/oncology - 1 May 2016

Kaymak Cihan Meriç, Bolat Fatih, Onay Hüseyin, Sari Ahmet, Ünver Korğali Elif, Aslan Şükran, Cura Ceylan, İçağasioğlu Dilara

Abstract excerpt

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...

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Identifiers

PMID: 26808373
DOI: 10.1097/MPH.0000000000000504

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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