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• W6188074 abstract "Supravalvular aortic stenosis (SV AS, Online MendeIian Inheritance in Man, [OMIM], #185500, search at http://www.ncbi.nlm.nih.gov/omiml) is an obstructive vascular lesion that involves the ascending aorta. It is often associated with stenoses of the pulmonary or other arteries. SV AS can occur sporadically, as an autosomal dominant condition with incomplete penetrance and variable expressivity, or associated with a more complex developmental disorder, Williams-Beuren syndrome (WBS, OMIM#194050). There was some controversy in the literature whether SV AS and WES cou1d be the same disorder [1,2]. The molecu1ar basis of SVAS was discovered in 1993 when !inkage studies of separate kindreds mapped the responsible locus to chromosome 7q [3,4] and a disruption of the elastin (ELN) gene (located at 7q11.23) was found in a family in which a translocation of chromosome 7 was cosegregating with SVAS [5]. Soon thereafter, hemizygosity at the ELN gene was found in all WBS cases studied [6] with deletions extending far outside the ELN locus. It became then clear that both entities, WBS and isolated SV AS, exist in aseparate manner being allelic conditions. Whi1e SV AS is caused by mutations affecting only the elastin gene [7], WES is a contiguous gene disorder due to a large deletion including both the elastin and additional genes [8]. Some forms of autosomal dominant cutis laxa (OMIM#123700) have been shown recently to be also allelic disorders caused by elastin mutations [9,10]." @default.
• W6188074 created "2016-06-24" @default.
• W6188074 creator A5063346638 @default.
• W6188074 date "2001-01-01" @default.
• W6188074 modified "2023-09-23" @default.
• W6188074 title "Williams-Beuren Syndrome And Supravalvularaortic Stenosis" @default.
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• W6188074 doi "https://doi.org/10.1007/978-94-010-1019-1_10" @default.
• W6188074 hasPublicationYear "2001" @default.
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