Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

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 (K(ATP)) channels, respectively. Multiple case reports of affected individuals have described the various clinical featu...

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Publicado no:Am J Med Genet C Semin Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7654223/
https://ncbi.nlm.nih.gov/pubmed/31828977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31753
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