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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
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
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
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
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
Barbosa MD et al.
Human Molecular Genetics, 1997
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