Noun
Angelman syndrome (uncountable)
English Wikipedia has an article on:Angelman syndromeWikipedia
(medicine) A neurogenetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), and frequent laughter or smiling.
A similar mechanism occurs in Angelman syndrome except there is a defective chromosome 15 from the mother or two copies from the father. citation citation Prader–Willi syndrome has no cure. Source: Internet
Clinical syndromes in which epilepsy is not the main feature (e.g. Angelman syndrome ) were categorized symptomatic but it was argued to include these within the category idiopathic. Source: Internet
Furthermore, syndromes such as Down’s syndrome, Cowden syndrome, Fragile X, Pader-Willi and Angelman syndrome have been reported to augment the occurrence of breast cancer. Source: Internet
He had Angelman syndrome and was incapable of walking and talking, but could move himself about by crawling or shuffling along on his bottom. Source: Internet
The maternal-specific inheritance pattern of Angelman syndrome is due to genomic imprinting of in neurons of the central nervous system, a naturally occurring phenomenon in which the maternal allele is expressed and the paternal is not. Source: Internet
Monthly dosing of GTX-102 showed substantial reduction of the transcript at monthly doses of 1, 2, and 3 mg. reduction occurred in multiple brain regions relevant to Angelman syndrome. Source: Internet