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Article

A case of syndromic neutropenia and mutation in G6PC3.

Journal of pediatric hematology/oncology - 1 Mar 2011

Gatti Simona, Boztug Kaan, Pedini Annalisa, Pasqualini Claudia, Albano Veronica, Klein Christoph, Pierani Paolo

Abstract excerpt

BACKGROUND: A previously unrecognized syndrome with congenital neutropenia and various organ abnormalities has been described recently, caused by mutations in the gene encoding glucose-6-phosphatase, catalytic subunit 3 (G6PC3). OBSERVATION: A 10-year-old boy from Ecuador suffering from severe neutropenia and multiple nonhematopoietic abnormalities was admitted to our department. We identified a novel mutation in...

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Identifiers

PMID: 21285905
DOI: 10.1097/MPH.0b013e3181f46bf4

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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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