| Modification Notes |
Williams-Beuren syndrome (WBS) is an autosomal dominant genetic condition that is characterized by physical, cognitive and behavioral traits. The physical traits associated with WBS include facial dysmorphology, vascular stenoses, growth deficiencies, dental anomalies and neurologic and musculoskeletal abnormalities. WBSCR16 (Williams-Beuren syndrome chromosomal region 16 protein), also known as RCC1-like G exchanging factor-like protein, is a 464 amino acid protein that contains six RCC1 repeats. Ubiquitously expressed, WBSCR16 is encoded by a gene located in the Williams-Beuren syndrome (WBS) critical region. It is suggested that haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities. |