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Clinical Utility of Whole-Exome Sequencing in Rare Diseases: Galactosialidosis
Rare genetic disorders can go undiagnosed for years as the entire spectrum of phenotypic variation is not well characterized given the reduced number of patients reported in the literature and the low frequency at which these occur. Moreover, the current paradigm for clinical diagnostics defines dis...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4065856/ https://ncbi.nlm.nih.gov/pubmed/24769197 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2014.04.005 |
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