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Article

Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak–Higashi syndrome

29 Mar 2005

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PMID: 15896657
DOI: 10.1016/j.ymgme.2005.02.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak–Higashi syndromePMID 15896657Read ↗

Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.Semantic proximity Read ↗

[Identification of a novel CHS1/LYST variant in a Chinese pedigree affected with Chediak-Higashi syndrome].Semantic proximity Read ↗

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Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.Semantic proximity Read ↗

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.Semantic proximity Read ↗

[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].Semantic proximity Read ↗

A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndromeSemantic proximity Read ↗

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Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.Semantic proximity Read ↗

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.Semantic proximity Read ↗

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