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Article

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

European journal of human genetics : EJHG - 1 Jan 2011

Banka Siddharth, Chervinsky Elena, Newman William G, Crow Yanick J, Yeganeh Shay, Yacobovich Joanne, Donnai Dian, Shalev Stavit

Abstract excerpt

Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature describing patients with SCN4 with mutations in the G6PC3 gene. We report four individuals with SCN4 who belong to a single large consanguineous kindred. We provide an overview of the...

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Identifiers

PMID: 20717171
DOI: 10.1038/ejhg.2010.136
PMCID: PMC3039503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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