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Article

Facial Phenotypic Pattern in Severe Congenital Neutropenia Type 4 (G6PC3 Deficiency): Description and Clinical Value.

Pediatric blood & cancer - 1 Nov 2026

Yamazaki-Nakashimada Marco Antonio, Onuma-Zamayoa Hiromi, Gámez-González Luisa Berenise, Scheffler-Mendoza Selma Cecilia, Espinosa-Navarro Melissa Ivonne, Peña-Saldivar Carolina, Rivas-Larrauri Francisco, Bustamante-Ogando Juan Carlos, Lugo-Reyes Saul, Martínez-Barricarte Ruben

Abstract excerpt

Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Patients with mutations in G6PC3 suffer from congenital neutropenia and additional complex developmental abnormalities. Previous reports have found that SCN4 has recognizable dysmorphic facial features. Several features have been described in patients...

Read the complete abstract on PubMed

Topics

Humans
Neutropenia
Glucose-6-Phosphatase
Female
Phenotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Child, Preschool

Infant

Child

Mutation

Face

Source

Identifiers

PMID: 42720574
DOI: 10.1002/1545-5017.70676

Genes

G6PC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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