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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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| Udgivet i: | Curr Pediatr Rev |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6742515/ https://ncbi.nlm.nih.gov/pubmed/26592417 |
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