RoesslerHIvan der HeuvelLMShieldsK, et al. Behavioral and cognitive functioning in individuals with Cantú syndrome. Am J Med Genet A. 2021;185(8):2434-2444.
4.
Van BonBWGilissenCGrangeDK, et al. Cantu syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012;90:1094-1101.
5.
HarakalovaMvan HarsselJTerhalP.Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet. 2012;44:793-796.
6.
Apuril VelgaraESMarianiMTorellaA, et al. Cantù syndrome: report of a patient with a novel variant in KCNJ8 and revision of literature. Am J Med Genet A. 2022;188:1661-1666.
7.
AkrouhAHalcombSENicholsCGSala-RabanalM.Molecular biology of KATP channels and implications for health and disease. IUBMB Life. 2009;61(10):971-978.
8.
CooperPESala-RabanalMLeeSJNicholsCG.Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. J Gen Physiol. 2015;146(6):527-540.
9.
GrangeDKRoesslerHIMcClenaghanC, et al. Cantu syndrome: findings from 74 patients in the International Cantu Syndrome Registry. Am J Med Genet C Semin Med Genet. 2019;181:658-681.
10.
ScurrIWilsonLLeesM, et al. Cantu syndrome: report of nine new cases and expansion of the clinical phenotype. Am J Med Genet A. 2011;155:508-518.
11.
YorkNWParkerHXieZ, et al. Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome. JCI Insight. 2020;5:e141443.
12.
García-CruzDMampelAEcheverriaMI, et al. Cantu syndrome and lymphoedema. Clin Dysmorphol. 2011;20(1):32-37.
13.
EngelsHBosseKEhrbrechtA, et al. Further case of Cantu syndrome: exclusion of cryptic subtelomeric chromosome aberrations. Am J Med Genet. 2002;111:205-209.
14.
KobayashiDCookALWilliamsDA.Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome. Pediatr Pulmonol. 2010;45(7):727-729.
15.
ParkJYKooSHJungYJLimYJChungML.A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension. Am J Med Genet A. 2014;164A(8):2118-2120.
16.
RobertsonSPKirkEBernierFBreretonJTurnerABankierA.Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome. Am J Med Genet. 1999;85:395-402.