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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
PURPOSE: Short stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity. METHODS: We systematically phenotyped 565 patients where common nongenetic causes of short sta...
Tallennettuna:
| Julkaisussa: | Genet Med |
|---|---|
| Päätekijät: | , , , , , , , , , , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5993671/ https://ncbi.nlm.nih.gov/pubmed/29758562 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.159 |
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