Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. If you have problems viewing pdf files, download the latest version of adobe reader. Williamsbeuren syndrome is a multisystem disorder caused by deletion of the williamsbeuren syndrome chromosome region, spanning 1. Williams beuren syndrome, quantitative pcr, gene dosage analysis. Williamsbeuren syndrome transcription factor, wstf. Williamsbeuren syndrome wbs, omim 194050 is a microdeletion syndrome. Review the genomic basis of the williams beuren syndrome. Na verdade, ela ganhou notoriedade apos ser descrita pelos medicos j. The deleted region includes more than 25 genes, and researchers believe that being hemizygous for these genes probably contributes to the characteristic features of this syndrome. For language access assistance, contact the ncats public information officer.
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