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Article

G6PC3 mutations cause non-syndromic severe congenital neutropenia.

Molecular genetics and metabolism - 1 Feb 2013

Banka Siddharth, Wynn Robert, Byers Helen, Arkwright Peter D, Newman William G

Abstract excerpt

The deficiency of ubiquitously expressed glucose-6-phosphatase (G6PC3) enzyme is known to result in a syndrome characterized by severe congenital neutropenia, prominent superficial venous pattern, congenital heart defects and genito-urinary malformations. Here, we describe four patients from three families with non-syndromic severe congenital neutropenia and identify four G6PC3 mutations as causative in these...

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Identifiers

PMID: 23298686
DOI: 10.1016/j.ymgme.2012.12.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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