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
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Soler-Palacín P et al.
Frontiers in Immunology, 2018
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
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
Manoli I et al.
American Journal of Medical Genetics. Part A, 2010
Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
Scherber E et al.
Clinical Genetics, 2009
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
Zarzour W et al.
Molecular Genetics and Metabolism, 2005
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