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Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
Height is a complex quantitative trait with a high heritability. Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. We have recently found that the retinoic acid degrading enzyme CYP26C1 modifies SHOX deficiency phenotyp...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6057989/ https://ncbi.nlm.nih.gov/pubmed/29706635 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0148-9 |
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