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People with Williams syndrome tend to use speech that is rich in emotional descriptors, high in prosody (exaggerated rhythm and emotional intensity), and features unusual terms and strange idioms. [37] Among the hallmark traits of people with Williams syndrome is an apparent lack of social inhibition.
The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.
Examples of facial features characteristic of Williams Syndrome. Elfin (Elven) facies is the form of facies in which the patient has facial characteristics like those traditionally associated with elves. It is characterized by a prominent forehead, widely spaced eyes, an upturned nose, an underdeveloped mandible, dental hypoplasia, and patulous ...
Gabrielle Marion-Rivard is a Canadian actress and singer, who won the Canadian Screen Award for Best Actress in 2014 for her performance in Gabrielle. [1]Marion-Rivard, who has Williams syndrome, [2] plays a young woman with Williams syndrome who is part of a choir of developmentally disabled people. [3]
Truelove: The Film is an American documentary film released in 2023, directed by Phil Viardo and featuring Christopher Knight, Wynonna Judd, and Carrie Underwood.It tells the story of Callie Truelove, a teenage girl with Williams syndrome, who travels around the United States to raise awareness about the rare genetic disorder.
Nearly 2.3 million people are estimated to be living with multiple sclerosis around the world, but when Montel Williams received his official diagnosis back in 1999, not much was known about the ...
Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. [1] Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. [2]
Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an enzyme that in humans is encoded by the ABHD11 gene. [ 5 ] [ 6 ] This gene encodes a protein containing an alpha/beta hydrolase fold domain.