Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: Bieth, Eric, Eddiry, Sanaa, Gaston, Véronique, Lorenzini, Françoise, Buffet, Alexandre, Conte Auriol, Françoise, Molinas, Catherine, Cailley, Dorothée, Rooryck, Caroline, Arveiler, Benoit, Cavaillé, Jérome, Salles, Jean Pierre, Tauber, Maïthé
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297892/
https://ncbi.nlm.nih.gov/pubmed/24916642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.103
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky