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Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience
Cantú syndrome (CS), characterized by hypertrichosis, distinctive facial features, and complex cardiovascular abnormalities, is caused by pathogenic variants in ABCC9 and KCNJ8 genes. These genes encode gain‐of‐function mutations in the regulatory (SUR2) and pore‐forming (Kir6.1) subunits of K(ATP)...
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| Опубликовано в: : | Am J Med Genet A |
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| Главные авторы: | , , , , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley & Sons, Inc.
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6899598/ https://ncbi.nlm.nih.gov/pubmed/31175705 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61200 |
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