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Cantu Syndrome

Disease ID:175
Name:Cantu Syndrome
Associated with:2 targets
Synonyms
Hypertrichotic osteochondrodysplasia, Cantu type
Database Links
OMIM: 239850
Orphanet: ORPHA1517

Targets

Kir6.1
References:  1-2
ABCC9

Ligands

No ligand related data available for Cantu Syndrome

References

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1. Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM et al.. (2013) Mutation of KCNJ8 in a patient with CantĂș syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet, 56 (12): 678-82. [PMID:24176758]

2. Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG. (2014) CantĂș syndrome resulting from activating mutation in the KCNJ8 gene. Hum. Mutat., 35 (7): 809-13. [PMID:24700710]