Article
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
American journal of medical genetics. Part A - 1 Dec 2013
Dworschak Gabriel C, Draaken Markus, Marcelis Carlo, de Blaauw Ivo, Pfundt Rolph, van Rooij Iris A L M, Bartels Enrika, Hilger Alina, Jenetzky Ekkehart, Schmiedeke Eberhard, Grasshoff-Derr Sabine, Schmidt Dominik, Märzheuser Stefanie, Hosie Stuart, Weih Sandra, Holland-Cunz Stefan, Palta Markus, Leonhardt Johannes, Schäfer Mattias, Kujath Christina, Rissmann Anke, Nöthen Markus M, Zwink Nadine, Ludwig Michael, Reutter Heiko
Abstract excerpt
Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal...
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