Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

• 作 者: Ines Ouertani Myriam Chaabouni
• 机 构: ServicedesMaladiesCongé,nitalesetHé,ré,ditaires,ServicedePé,diatrie,ServicedeCardiol
• 出 处: 遗传学期刊(英文)
• 发表日期: 2014年5期
• 关键词: Williams-Beuren SYNDROME FISH Dysmorphism CARDIOVASCULAR MALFORMATION Williams-B

Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation