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Article

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.

Journal of pediatric hematology/oncology - 1 Mar 2013

Aytekin Caner, Germeshausen Manuela, Tuygun Nilden, Dogu Figen, Ikinciogullari Aydan

Abstract excerpt

Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a newly described syndromic type of severe congenital neutropenia, associated with multiple organ abnormalities including facial, cardiac, and urogenital abnormalities, and increased visibility of superficial veins. The molecular pathophysiology of G6PC3 deficiency is associated with the disturbed glucose homeostasis, increased endoplasmic reticulum...

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PMID: 23018568
DOI: 10.1097/MPH.0b013e3182679000

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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