Article
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2019
Grange Dorothy K, Roessler Helen I, McClenaghan Conor, Duran Karen, Shields Kathleen, Remedi Maria S, Knoers Nine V A M, Lee Jin-Moo, Kirk Edwin P, Scurr Ingrid, Smithson Sarah F, Singh Gautam K, van Haelst Mieke M, Nichols Colin G, van Haaften Gijs
Abstract excerpt
Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (KATP ) channels, respectively. Multiple case reports of affected individuals have described the various clinical features of CS, but systematic studies are lacking. To define the effects of genetic variants on CS phenotypes and...
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