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Prader-Willi syndrome: reflections on seminal studies and future therapies

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 th...

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Detalles Bibliográficos
Autores principales: Chung, Michael S., Langouët, Maéva, Chamberlain, Stormy J., Carmichael, Gordon G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Royal Society 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536080/
https://www.ncbi.nlm.nih.gov/pubmed/32961075
http://dx.doi.org/10.1098/rsob.200195