Williams syndrome is a rare genetic disorder with congenital heart disease, distinctive facial features (elfin-like faces), hypercalcemia, neurodevelopmental, ... |
7 авг. 2024 г. · Williams syndrome is a rare genetic condition affecting multiple organ systems. Originally described independently by Williams and Beuren in ... Pathophysiology · Etiology · Epidemiology |
31 мая 2022 г. · Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability ... |
1 мая 2008 г. · Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth ( ... |
Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. ... Typically, ... Gabrielle Marion-Rivard · Supravalvular aortic stenosis · Syndromic autism |
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic ... |
WS is a multisystem disorder with a broad but characteristic pattern of organ involvement (Figure 1), including a distinctive facial appearance (Figure 5). As ... |
The syndrome is characterized by cognitive and behavioral abnormalities that include mild to moderate mental retardation, delayed language and motor development ... |
Williams syndrome is caused by a missing segment (a 'deletion') of genetic material on chromosome 7. These deletions occur randomly. About one in every 20,000 ... What causes Williams... · Diagnosis of Williams syndrome |
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