Article
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.
European journal of pediatrics - 1 Jun 2011
Schramm Charlotte, Draaken Markus, Tewes Gabriel, Bartels Enrika, Schmiedeke Eberhard, Märzheuser Stefanie, Grasshoff-Derr Sabine, Hosie Stuart, Holland-Cunz Stefan, Priebe Lutz, Kreiss-Nachtsheim Martina, Hoffmann Per, Aretz Stefan, Nöthen Markus M, Reutter Heiko, Ludwig Michael
Abstract excerpt
INTRODUCTION: Anorectal malformations (ARM) range from mild anal to severe anorectal anomalies. Approximately 50% are estimated to be non-syndromic with multiple familial cases reported that suggest underlying genetic factors. These, however, still await identification. MATERIALS AND METHODS: We report a familial case of non-syndromic ARM with a mother and her two children being affected. Mother and daughter had...
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