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Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update
BACKGROUND: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both 15s from the mother (ab...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Bentham Science Publishers
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040524/ https://www.ncbi.nlm.nih.gov/pubmed/31333129 http://dx.doi.org/10.2174/1573396315666190716120925 |