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
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 )
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Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W 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
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B et al.
Genome Medicine, 2015
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
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
Zarzour W et al.
Molecular Genetics and Metabolism, 2005
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
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