A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

(2012) Bradley N. Smith et al.   BRITISH JOURNAL OF HAEMATOLOGY

Genetic Defects in Severe Congenital Neutropenia: Emerging Insights into Life and Death of Human Neutrophil Granulocytes

(2011) Christoph Klein   Annual Review of Immunology

Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

(2011) Kaan Boztug et al.   JOURNAL OF PEDIATRICS

Congenital neutropenia: diagnosis, molecular bases and patient management

(2011) Jean Donadieu et al.   Orphanet Journal of Rare Diseases

Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?

(2010) Siddharth Banka et al.   AMERICAN JOURNAL OF HEMATOLOGY

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

(2010) D. H. McDermott et al.   BLOOD

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase- -deficient neutrophils in a congenital neutropenia syndrome

(2010) H. S. Jun et al.   BLOOD

Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: Evidence for phenotype determination by modifying genes

(2010) Peter E. Newburger et al.   PEDIATRIC BLOOD & CANCER

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic and molecular diagnosis of severe congenital neutropenia

(2008) Alister C Ward et al.   CURRENT OPINION IN HEMATOLOGY