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Dominant missense mutations in ABCC9 cause Cantú syndrome.

Pubmed ID: 
22610116
Year: 
2012
Month: 
JUL
Volume: 
44
Issue: 
7
Citation: 
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. Dominant missense mutations in ABCC9 cause Cantú syndrome. NATURE GENETICS 44 (7) : 793 - 6(2012) PubMed