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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] Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such as ...
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.
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.
Williams Beuren syndrome is a neurodevelopmental disorder characterized by congenital heart and vascular disease, hypertension, infantile hypercalcemia, dental abnormalities, dysmorphic facial features, mental retardation, premature aging of the skin, and unique cognitive and personality profiles. While haploinsufficiency of elastin is known to ...
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 ...
In 2015, he was awarded 431,100 Euro by Telethon for studying transcriptional and epigenetic dysfunctions in Williams Beuren syndrome and 7q11.23 microduplication syndrome, following their seminal work published in Nature Genetics titled "7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in ...
Williams syndrome, [8] [9] a neurodevelopmental disorder characterized by a unique profile of strengths and deficits; most with the condition have mild intellectual disability but have grammatical and lexical abilities above what would be expected from their IQs. [10] They are hypersocial and empathetic, but social isolation is commonly ...
This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [7] BAZ1B has been found to affect the activity of 448 other genes and is very important in the development of the neural crest and the face.