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AB058. Prader-Willi syndrome: clinical and genetic features
BACKGROUND: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that results from the lack of expression of paternal inherited imprinted genes on chromosome 15q11-13. PWS is characterized by severe infantile hypotonia; hypogonadism; obesity and hyperphagia; developmental delay, cha...
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| Vydáno v: | Ann Transl Med |
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| Hlavní autor: | |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
AME Publishing Company
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641720/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s058 |
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