In 2 different patients with different variants of LIMK1: A43T exhibited epileptic encephalopathy and developmental delay, and actin polymerization was decreased while G511A showed common variable immune deficiency and glucose dysregulation and actin polymerization was increased.
Williams syndrome (WS) is a multi-system disorder caused by a microdeletion on chromosome 7q. Throughout infancy, childhood, and adulthood, abnormalities in body composition and in multiple endocrine axes may arise for individuals with WS. This review describes the current literature regarding growth, body composition, and endocrine issues in WS with recommendations for surveillance and management by the endocrinologist, geneticist, or primary care physician.
Published August 12, 2012.
Amit Lahoti*, Christine Yu, Preneet Cheema Brar, Austin Dalgo, Evgenia Gourgari, Rebecca Harris, Manmohan K. Kamboj, Seth Marks, Radha Nandagopal, Laura Page, Vandana Raman, Danielle G. Reynolds, Kyriakie Sarafoglou, Carrie Terrell, and Takara L. Stanley, on behalf of the Pediatric Endocrine Society Drug & Therapeutics Committee.
Takara Stanley, MD. Virtual Convention 10/12/2020
Many adults with WS have issues with obesity, bone health, and glucose. This session will discuss the signs and treatments for each.
How to watch: Sessions can be viewed immediately or at a pre-scheduled daily time. Click the button below, then click on "register" and then "select a date". If you'd like to watch immediately, click on "watch yesterday's replay now".
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.
