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Article

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.

Pediatric blood & cancer - 1 Jul 2013

Estévez Orlando A, Ortega Consuelo, Tejero Ángeles, Fernández Silvia, Aguado Rocío, Aróstegui Juan I, González-Roca Eva, Peña José, Santamaría Manuel

Abstract excerpt

Severe congenital neutropenia type 4 (SCN4) is associated with mutations in the G6PC3 gene. To date, all patients bearing the p.Gly260Arg variant of the G6PC3 gene show heart defects. Here, we present a case of the p.Gly260Arg variant in a patient who did not have structural or functional heart anomalies. Treatment with granulocyte colony-stimulating factor recovered the absolute neutrophil count and neutrophil...

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PMID: 23441086
DOI: 10.1002/pbc.24499

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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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