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)...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2019
Fag:
Clinical Reports
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker