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Article

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.

Italian journal of pediatrics - 14 Nov 2014

Notarangelo Lucia Dora, Savoldi Gianfranco, Cavagnini Sara, Bennato Veronica, Vasile Sabrina, Pilotta Alba, Plebani Alessandro, Porta Fulvio

Abstract excerpt

Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and other anomalies including congenital heart defects, prominent superficial veins, uro-genital anomalies, facial dysmorphism, growth and developmental delay and intermittent thrombocytopenia. In some patients, SCN represents...

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Identifiers

PMID: 25391451
DOI: 10.1186/s13052-014-0080-8
PMCID: PMC4234865

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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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