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
Chédiak-Higashi syndrome with novel gene mutation.
Helmi MM et al.
Bmj Case Reports, 2017
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
Singh A et al.
International Journal of Dermatology, 2016
Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
Scherber E et al.
Clinical Genetics, 2009
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