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17 Ιουν 2021 · This PrimeView accompanies the Primer by Pober, Kozel and colleagues and highlights the epidemiology, pathophysiology, diagnosis, screening, management and quality of life of individuals with...
6 Ιουν 2021 · Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. It arises due to mispairing of low-copy DNA repetitive elements at meiosis. Deletion size is similar across most individuals with WS and leads to loss of one copy of 25–27 genes on chromosome 7q11.23.
17 Ιουν 2021 · Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis.
29 Ιουλ 2024 · This descriptive study of a large cohort of individuals living with WS quantifies the most common and impactful GI symptoms for clinicians and caregivers. GI symptoms are common in people with WS of all ages. Those symptoms warrant evaluation and treatment when present.
Williams syndrome is a relatively rare multi‐system genetic syndrome caused by a chromosome 7q deletion. Each patient with GI concerns needs individualized evaluation based on their symptoms.
9 Απρ 1999 · Clinical Description. Williams syndrome (WS) is a multisystem disorder characterized by cardiovascular disease (elastin arteriopathy, most often manifesting as supravalvar aortic stenosis), developmental delay, usually mild intellectual disability, a specific cognitive profile, unique personality characteristics, connective tissue abnormalities
1 Φεβ 2020 · Williams syndrome (WS), also known as Williams-Beuren syndrome, is caused by a deletion of part of chromosome 7 and is a multisystem disorder that was first identified as a distinct clinical entity in 1961. 1 It is present at birth with a prevalence of 1 in 7500 2 and affects boys and girls equally. Children with WS usually come to the ...
