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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Библиографические подробности
Опубликовано в: :Am J Med Genet A
Главные авторы: Ma, Alan, Gurnasinghani, Sunita, Kirk, Edwin P., McClenaghan, Conor, Singh, Gautam K., Grange, Dorothy K., Pandit, Chetan, Zhu, Yung, Roscioli, Tony, Elakis, George, Buckley, Michael, Mehta, Bhavesh, Roberts, Philip, Mervis, Jonathan, Biggin, Andrew, Nichols, Colin G.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley & Sons, Inc. 2019
Предметы:
Clinical Reports
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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