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Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
BACKGROUND: Whole‐exome sequencing (WES) has emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. In this study, we aimed to find the potential genetic cause of skeletal disease, a heterogeneous disease, revealing the obvious short stature phenotype. In an Iranian fa...
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| Опубликовано в: : | Mol Genet Genomic Med |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057126/ https://ncbi.nlm.nih.gov/pubmed/31944631 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1118 |
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