Article
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
European journal of human genetics : EJHG - 1 Sept 1999
Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de Saint Basile G
Abstract excerpt
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder (incidence around 1 in 106 births), characterised by a complex immunologic defects, reduced pigmentation, and presence of giant granules in many different cell types. It most likely results from defective organellar trafficking or protein sorting. The causative gene (LYST) has recently been identified and shown to be homologous to the beige...
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