Article
Identifying key underlying regulatory networks and predicting targets of orphan C/D box <i>SNORD116</i> snoRNAs in Prader-Willi syndrome
2023-10-05
Abstract excerpt
Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder characterized principally by initial symptoms of neonatal hypotonia and failure-to-thrive in infancy, followed by hyperphagia and obesity. It is well established that PWS is caused by loss of paternal expression of the imprinted region on chromosome 15q11-q13. While most PWS cases exhibit megabase-scale deletions of the paternal chromosome 15q11-q13...
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Identifiers and source
- Literature Corpus work
- b98ff99a-6ee2-5367-bb4e-3da05229229a
- DOI
- 10.1101/2023.10.03.560773
