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Article

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.

Journal of pediatric hematology/oncology - 1 Oct 2016

Glasser Chana L, Picoraro Joseph A, Jain Preti, Kinberg Sivan, Rustia Evelyn, Gross Margolis Kara, Anyane-Yeboa Kwame, Iglesias Alejandro D, Green Nancy S

Abstract excerpt

Severe congenital neutropenia type IV (SCN IV) is a syndrome of severe neutropenia, cardiac and urogenital defects, prominent superficial veins, facial dysmorphism, failure to thrive (FTT), and intermittent thrombocytopenia, caused by a glucose-6-phosphatase catalytic subunit 3 (G6PC3) gene mutation. SCN IV has been linked to glycogen storage disease type 1b as both disorders involve disruption of the...

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Identifiers

PMID: 27571123
DOI: 10.1097/MPH.0000000000000660

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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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