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Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of mo...

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書目詳細資料
主要作者: Jin, Dong Kyu
格式: Artigo
語言:Inglês
出版: The Korean Pediatric Society 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3077502/
https://ncbi.nlm.nih.gov/pubmed/21503198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2011.54.2.55
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