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Copy Number Variations in a Population with Prune Belly Syndrome
Prune Belly Syndrome (PBS) is a congenital multisystem myopathy with mild to lethal severity. While of uncertain etiology, 95% male predominance and familial occurrence suggest a genetic basis. As copy number variations (CNVs) can cause unexplained genetic disorders, we tested for novel CNVs in a la...
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| Publicat a: | Am J Med Genet A |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6289753/ https://ncbi.nlm.nih.gov/pubmed/30285310 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40476 |
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