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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Enregistré dans:
Détails bibliographiques
Publié dans:Am J Med Genet A
Auteurs principaux: 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
Langue:Inglês
Publié: John Wiley & Sons, Inc. 2019
Sujets:
Clinical Reports
Accès en ligne: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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