Article
Prader-Willi syndrome: reflections on seminal studies and future therapies.
Open biology - 1 Sept 2020
Chung Michael S, Langouët Maéva, Chamberlain Stormy J, Carmichael Gordon G
Abstract excerpt
Prader-Willi syndrome (PWS) is caused by the loss of function of the paternally inherited 15q11-q13 locus. This region is governed by genomic imprinting, a phenomenon in which genes are expressed exclusively from one parental allele. The genomic imprinting of the 15q11-q13 locus is established in the germline and is largely controlled by a bipartite imprinting centre. One part, termed the Prader-Willi syndrome...
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