Article
Williams syndrome and related disorders.
Annual review of genomics and human genetics - 1 Jan 2000
Morris C A, Mervis C B
Abstract excerpt
Three clinical conditions displaying phenotypic overlap have been linked to mutation or deletion of the elastin gene at 7q11.23. Supravalvar aortic stenosis, an autosomal dominant disorder characterized by elastin arteriopathy, is caused by mutation or intragenic deletions of ELN resulting in loss of function. Autosomal dominant cutis laxa, a primarily cutaneous condition, is the result of frameshift mutations at...
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