Associated Papers
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Morimoto M et al.
Journal of Medical Genetics, 2024
The lysosomal trafficking regulator "LYST": an 80-year traffic jam.
Turner ME et al.
Frontiers in Immunology, 2024
38774881 (PubMed )
Supplement: DataSheet_1.pdf
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
Song Y et al.
Bmc Medical Genetics, 2020
31906877 (PubMed )
Supplement: 12881_2019_922_MOESM5_ESM.xlsx › Sheet2
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
28228131 (PubMed )
Supplement: 12920_2017_246_MOESM2_ESM.pdf
Chédiak-Higashi syndrome with novel gene mutation.
Helmi MM et al.
Bmj Case Reports, 2017
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
Jin Y et al.
Scientific Reports, 2017
Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients.
Al-Tamemi S et al.
Journal of Pediatric Hematology/oncology, 2014
Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
Scherber E et al.
Clinical Genetics, 2009
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