Hearing From Parents: The Impact of Receiving the Diagnosis of Williams Syndrome in Their Child
Jessica L. Waxler, Elizabeth M. Cherniske, Kristen Dieter, Pamela Herd, and Barbara R. Pober. 2012
Diagnosis
Medical Progress - Williams-Beuren Syndrome
Barbara R. Pober, M.D. 2010
Williams–Beuren syndrome (also known as Williams’ syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multisystem disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes.