Elastin gene deletions in Williams syndrome.
Williams syndrome is a developmental disorder affecting predominantly connective tissue and the central nervous system. Identification of elastin mutations in families with supravalvar aortic stenosis has enabled the identification of potentially large deletions that include one elastin allele in individuals with Williams syndrome. Current efforts are aimed at defining the extent of these deletions and additional genes that contribute to the Williams syndrome phenotype.
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Children's Hospital, Boston, Massachusetts, USA 02115.
D002648:Child; D004549:Elastin / Q000096:biosynthesis / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D018980:Williams Syndrome / Q000235:genetics* / Q000378:metabolism
D004549:Elastin