Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2021

Maroufi Seyed F, Shaka Zoha, Mojtabavi Helia, Sadeghalvad Mona, Rayzan Elham, Sedighi Iraj, Shahkarami Sepideh, Najafi Mehri, Rohlfs Meino, Klein Christoph, Rezaei Nima

Abstract excerpt

BACKGROUND: Severe congenital neutropenia (SCN4) caused by mutations in glucose-6- phosphatase catalytic subunit 3 (G6PC3) is characterized by recurrent infections due to severe neutropenia, may be accompanied by other extra-hematopoietic manifestations; including structural heart defects, urogenital abnormalities, prominent superficial venous markings, growth retention, and inflammatory bowel diseases with rare...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Congenital Bone Marrow Failure Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glucose-6-Phosphatase

Share to Infant

Share to Mutation

Share to Neutropenia

Share to Phenotype

Source

Identifiers

PMID: 34137364
DOI: 10.2174/1871530321666210616110631

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.PMID 34137364Read ↗

Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.Semantic proximity Read ↗

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.Semantic proximity Read ↗

G6PC3 mutations cause non-syndromic severe congenital neutropenia.Semantic proximity Read ↗

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

Severe Congenital Neutropenia Due To G6PC3 Deficiency Case Series of Five Patients and Literature ReviewSemantic proximity Read ↗

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.Semantic proximity Read ↗

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.Semantic proximity Read ↗

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.Semantic proximity Read ↗

A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.Semantic proximity Read ↗

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

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.Semantic proximity Read ↗

A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.