Article
Cantú syndrome is caused by mutations in ABCC9.
American journal of human genetics - 8 Jun 2012
van Bon Bregje W M, Gilissen Christian, Grange Dorothy K, Hennekam Raoul C M, Kayserili Hülya, Engels Hartmut, Reutter Heiko, Ostergaard John R, Morava Eva, Tsiakas Konstantinos, Isidor Bertrand, Le Merrer Martine, Eser Metin, Wieskamp Nienke, de Vries Petra, Steehouwer Marloes, Veltman Joris A, Robertson Stephen P, Brunner Han G, de Vries Bert B A, Hoischen Alexander
Abstract excerpt
Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9 in all probands. With the inclusion of the remaining cohort of ten individuals with Cantú syndrome, a total of...
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