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Article

Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.

European journal of haematology - 1 Jan 2014

Sánchez-Guiu Isabel, Antón Ana I, García-Barberá Nuria, Navarro-Fernández José, Martínez Constantino, Fuster Jose L, Couselo Jose M, Ortuño Francisco J, Vicente Vicente, Rivera Jose, Lozano Maria L

Abstract excerpt

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease resulting from mutations in the LYST/CHS1 gene, which encodes for a 429 kDa protein, CHS1/LYST, that regulates vesicle trafficking and determines the size of lysosomes and other organelles. To date, 60 different mutations have been characterized, and a reasonably straightforward phenotype-genotype correlation has been suggested. We describe two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24112114
DOI: 10.1111/ejh.12203

Genes

LYST

Provenance

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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