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 ) channels, respectively. Multiple case reports of affected individuals have described the various clinical features...
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| Vydané v: | American journal of medical genetics. Part C, Seminars in medical genetics Ročník 181; číslo 4; s. 658 |
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| Hlavní autori: | , , , , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | English |
| Vydavateľské údaje: |
United States
01.12.2019
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| Predmet: | |
| ISSN: | 1552-4876, 1552-4876 |
| On-line prístup: | Zistit podrobnosti o prístupe |
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