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Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing
Here, we present a case of a 31-year-old man with progressive cognitive decline, ataxia, and dystonia. Extensive laboratory, radiographic, and targeted genetic studies over the course of several years failed to yield a diagnosis. Initial whole exome sequencing through a commercial laboratory identif...
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| Опубликовано в: : | JIMD Rep |
|---|---|
| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Springer Berlin Heidelberg
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6122056/ https://ncbi.nlm.nih.gov/pubmed/29453517 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_90 |
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