Associated Papers
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A et al.
Immunologic Research, 2024
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
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
39669605 (PubMed )
Supplement: mmc1.pdf
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
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
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Shimazaki H et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
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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