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Challenges of diagnostic exome sequencing in an inbred founder population
Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding, with mul...
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| Autors principals: | , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Blackwell Publishing Ltd
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3865571/ https://ncbi.nlm.nih.gov/pubmed/24498604 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.7 |
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