Article
Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.
Pediatric dermatology - 1 Jan 2000
Urbán Z, Peyrol S, Plauchu H, Zabot M T, Lebwohl M, Schilling K, Green M, Boyd C D, Csiszár K
Abstract excerpt
Williams syndrome (WS) is a complex developmental disorder with multisystem involvement known to be the result of a microdeletion in the q11.23 region of chromosome 7. This deletion involves several genes, including the elastin gene. Although elastic fibers are important constituents of skin, little is known about the skin phenotype in WS patients. We have therefore studied the skin of four WS patients in which...
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