Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 2021
Cantu syndrome: A longitudinal review of vascular findings in three individuals.
Parrott A et al.
American Journal of Medical Genetics. Part A, 2020
Three-dimensional facial morphology in Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 2020
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.
Ohko K et al.
The Journal of Dermatology, 2020
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.
Huang Y et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Genetic causes of dilated cardiomyopathy.
Favalli V et al.
Heart (british Cardiac Society), 2016
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.
Hiraki Y et al.
American Journal of Medical Genetics. Part A, 2014
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