Associated Papers
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.
Kleinendorst L et al.
American Journal of Medical Genetics. Part A, 2026
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Personalized Therapeutics for KATP-Dependent Pathologies.
Nichols CG
Annual Review of Pharmacology and Toxicology, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam.
Tran TNA et al.
American Journal of Medical Genetics. Part A, 2022
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 2021
Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome.
York NW et al.
Jci Insight, 2020
Three-dimensional facial morphology in Cantú syndrome.
Roessler HI et al.
American Journal of Medical Genetics. Part A, 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
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Ma A et al.
American Journal of Medical Genetics. Part A, 2019
Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.
Huang Y et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.
Leon Guerrero CR et al.
Neurology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
Czeschik JC et al.
American Journal of Medical Genetics. Part A, 2013
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M et al.
Nature Genetics, 2012
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
Afifi HH et al.
Pediatric Dermatology, 0