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The dilemma of diagnostic testing for Prader-Willi syndrome
Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although t...
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| Publié dans: | Transl Pediatr |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
AME Publishing Company
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5253259/ https://ncbi.nlm.nih.gov/pubmed/28164030 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp.2016.07.04 |
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