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- W98918226 abstract "Mutations at the elastin locus (chromosome 7q11.23) have been demonstrated in individuals with Williams syndrome (WS) and familial supravalvar aortic stenosis (SVAS). Relationships between elastin mutations and vascular and/or neurodevelopmental pathology have yet to be defined. In determining phenotype-genotype correlations in WS/SVAS, we examined 35 individuals with sporadic WS, families with SVAS affecting multiple members, and sporadic cases of isolated obstructive vascular disease. Full length elastin cDNA was used to probe a human genomic library from which multiple elastin genomic clones have been isolated and ordered relative to the elastin gene, covering a minimum of 35 kb. (Additional genomic clones are being obtained by {open_quote}walking{close_quote} 5{prime} and 3{prime} to elastin.) Elastin genomic clones were used as probes in fluorescent in situ hybridization of metaphase chromosomes from WS/SVAS patients. Preliminary analysis confirms elastin deletions in WS patients, but have not yet been demonstrated in patients with isolated vascular disease using this technique. Results of deletional analysis in individuals representing a wide spectrum of phenotypes will be presented." @default.
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- W98918226 date "1994-09-01" @default.
- W98918226 modified "2023-10-01" @default.
- W98918226 title "Molecular genetic analysis of individuals with Williams syndrome and supravalvar aortic stenosis" @default.
- W98918226 hasPublicationYear "1994" @default.
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