Chediak-Higashi syndrome
Definition:
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations in the CHS1/LYST gene.
References:
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[1]. M D Barbosa, et al. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet. 1997 Jul;6(7):1091-8. [Content Brief]
[2]. Megan S Lim, et al. The molecular pathology of primary immunodeficiencies. J Mol Diagn. 2004 May;6(2):59-83. [Content Brief]
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