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Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [ 2 ]
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]
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 ...
Williams was a man of many interests, including music and literature. In 1967 and while in London, he met the New Zealand poet Janet Frame , who was a friend of a friend. Shortly afterwards Frame became ill with viral meningitis , and after a hospitalisation, she accepted an invitation to stay with Williams as she recovered. [ 5 ]
In humans, the researchers went on to note, WBSCR17 is at least partly responsible for a rare genetic disorder called Williams-Beuren syndrome. Williams-Beuren is characterized by elfin features, a shortened nose bridge, and "exceptional gregariousness"—its sufferers are often overly friendly and trusting of strangers.
THE FACTS: The clip shows Montel with Harris and his daughter, Ashley Williams. Harris and Williams, a former marine who hosted “The Montel Williams Show” for more than a decade, dated briefly ...
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.