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Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches

BACKGROUND: Prader-Willi syndrome (PWS) is a neuro-developmental genetic disorder due to lack of expression of genes inherited from the paternal chromosome 15q11-q13 region with three main genetic subtypes. These include paternal 15q11-q13 deletion (about 70% of cases), maternal uniparental disomy 1...

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Publicat a:Curr Pediatr Rev
Autors principals: Butler, Merlin G., Manzardo, Ann M., Forster, Janice L.
Format: Artigo
Idioma:Inglês
Publicat: 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6742515/
https://ncbi.nlm.nih.gov/pubmed/26592417
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