Understanding Elastin and Its Role in WS
Supplement to February 2014 Webinar.
Elastin
Understanding Elastin and its Role in WS Webinar
Discussion about the role of Elastin in Williams syndrome followed by a question and answer session with Sarah Moonier.
Intracranial Arteries in Individuals with the Elastin Gene Hemideletion of Williams Syndrome
D.P. Wint, J.A. Butman, J.C. Masdeu, A. Meyer-Lindenberg, C.B. Mervis, D. Sarpal, C.A. Morris, and K.F. Berman. 2014
Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome
Colleen A. Morris, Ariel M. Pani, Carolyn B. Mervis, Cecilia M. Rios, Doris J. Kistler, and Ronald G. Gregg. 2011.
Abstract Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are variable in the WS population, but few factors other than age and gender are known to influence the phenotype.