A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation. [PDF]
J Gen Physiol, 2023 Crespo-García T +10 more
europepmc +1 more source
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9. [PDF]
Eur J Hum Genet, 2023 Gao J +8 more
europepmc +1 more source
Young adult with Cantú syndrome: dealing with a rare genetic skin disorder. [PDF]
BMJ Case Rep, 2021 Roessler HI +2 more
europepmc +1 more source
UEG Week 2025 Moderated Posters
United European Gastroenterology Journal, Volume 13, Issue S8, Page S189-S802, October 2025.
wiley +1 more source
Kir6.1 and SUR2B in Cantú syndrome.
Am J Physiol Cell Physiol, 2022 McClenaghan C, Nichols CG.
europepmc +1 more source
Three-dimensional facial morphology in Cantú syndrome. [PDF]
Am J Med Genet A, 2020 Roessler HI +6 more
europepmc +1 more source
More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family's Medical Narrative. [PDF]
J Clin MedNarbona-Arias I +6 more
europepmc +1 more source
Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility. [PDF]
JCEM Case RepNygren D +4 more
europepmc +1 more source
Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels. [PDF]
J Biol ChemGao J, Thompson ET, Nichols CG.
europepmc +1 more source
Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice. [PDF]
J Gen PhysiolScala R +7 more
europepmc +1 more source