Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E.
Harakalova M, et al. Among authors: renkens i.
Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.
Nat Genet. 2012.
PMID: 22610116