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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.
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 ...
Haploinsuffiency (deletion of one copy) of the GTF2I gene is noted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. It is duplicated in the 7q11.23 duplication syndrome . [ 8 ]
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 ...
It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this ...
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.
Nearly 72.88 million Americans rely on Social Security for monthly income. The vast majority, about 65.5 million, collect Social Security benefits. Another 4.88 million receive Supplemental ...
Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene. [5] [6] [7]This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation.