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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Bibliographic Details
Published in:Am J Med Genet A
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Inc. 2019
Subjects:
Clinical Reports
Online Access: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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