Article
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Birth defects research. Part A, Clinical and molecular teratology - 1 Oct 2014
Zeidler Claudia, Woelfle Joachim, Draaken Markus, Mughal Sadaf S, Große Greta, Hilger Alina C, Dworschak Gabriel C, Boemers Thomas M, Jenetzky Ekkehart, Zwink Nadine, Lacher Martin, Schmidt Dominik, Schmiedeke Eberhard, Grasshoff-Derr Sabine, Märzheuser Stefanie, Holland-Cunz Stefan, Schäfer Mattias, Bartels Enrika, Keppler Kathleen, Palta Markus, Leonhardt Johannes, Kujath Christina, Rißmann Anke, Nöthen Markus M, Reutter Heiko, Ludwig Michael
Abstract excerpt
BACKGROUND: The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a...
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