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Article

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

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2022

López-Rodríguez Larissa, Svyryd Yevgeniya, Benítez-Alonso Edmar O, Rivero-García Pamela, Luna-Muñoz Leonora, Mutchinick Osvaldo M

Abstract excerpt

Background: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by G6PC3 gene pathogenic variants. The estimated prevalence is 1/10,000,000 people. Over 90% of patients present a syndromic form with variable multisystemic involvement, including congenital heart defects, increased visibility of superficial veins (IVSV), inflammatory bowel disease, and congenital...

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Identifiers

PMID: 36546889
DOI: 10.24875/RIC.22000234

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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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