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:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.