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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...
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| Publicado no: | Curr Pediatr Rev |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bentham Science Publishers
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7040524/ https://ncbi.nlm.nih.gov/pubmed/31333129 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2174/1573396315666190716120925 |
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