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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...
Tallennettuna:
| Julkaisussa: | Curr Pediatr Rev |
|---|---|
| Päätekijät: | , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6742515/ https://ncbi.nlm.nih.gov/pubmed/26592417 |
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