Associated Papers
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.
Gao J et al.
European Journal of Human Genetics : Ejhg, 2023
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.
McClenaghan C et al.
The Journal of Biological Chemistry, 2018
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