Condition: Chediak-Higashi Syndrome


rs28942077 in LYST gene and Chediak-Higashi Syndrome PMID 11857544 2002 Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

PMID 24521565 2014 Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

PMID 10648412 2000 Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

PMID 28193763 2017 Neurologic involvement in patients with atypical Chediak-Higashi disease.

PMID 8896560 1996 Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

PMID 28145517 2017 WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS.

PMID 28458669 2017 Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.