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http://dx.doi.org/10.22742/JIG.2021.3.2.35

Genetics of Prader-Willi Syndrome  

Yoon, Ju Young (Department of Pediatrics, Pusan National University Children's Hospital)
Publication Information
Journal of Interdisciplinary Genomics / v.3, no.2, 2021 , pp. 35-40 More about this Journal
Abstract
Prader-Willi syndrome (PWS) is a rare genetic disorder which lead to severe neurodevelopmental, endocrine, and metabolic impairment. PWS is genetic disorder related to genomic errors which lead to inactivation of paternally-inherited genes on chromosome 15q11-q13. Epigenetic mechanisms are also involved in PWS, and epigenetic therapies are under investigation. Here we provide review about genetics of PWS, focused on genes involved in pathophysiology of PWS. We will also summarize epigenetics and genetic counseling of PWS.
Keywords
Prader-Willi Syndrome; Genetics; Phenotypes;
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