Associated Papers
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T et al.
American Journal of Human Genetics, 2024
38772379 (PubMed )
Supplement: mmc3.pdf
Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents.
Houtman MJC et al.
Journal of Cellular and Molecular Medicine, 2019
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M et al.
Nature Genetics, 2012
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