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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.
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]
7q11.23 duplication syndrome (also called dup7 or 7dup or duplication of the Williams-Beuren syndrome critical region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.
Brown-Vialetto-Van-Laere syndrome (BVVL), is a rare, progressive, inherited neurodegenerative disorder that most often manifests in infancy or early childhood. Since 2010, mutations in the SLC52A1, SLC52A2, or SLC52A3 genes, which encode riboflavin transporters, have been identified as the cause of BVVL.
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.
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.
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 ]
Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 is an enzyme that in humans is encoded by the WBSCR17 gene. [5] [6] [7]This gene encodes an N ...