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• W2069000161 endingPage "3100" @default.
• W2069000161 startingPage "3087" @default.
• W2069000161 abstract "VACTERL association (sometimes termed VATER association depending on which component features are included) is typically defined by the presence of at least three of the following congenital malformations, which tend to statistically co-occur in affected individuals: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Although the clinical criteria for VACTERL association may appear to be straightforward, there is wide variability in the way clinical geneticists define the disorder and the genetic testing strategy they use when confronted with an affected patient. In order to describe this variability and determine the most commonly used definitions and testing modalities, we present the results of survey responses by 121 clinical geneticists. We discuss the results of the survey responses, provide a literature review and commentary from a group of physicians who are currently involved in clinical and laboratory-based research on VACTERL association, and offer an algorithm for genetic testing in patients with this association." @default.
• W2069000161 created "2016-06-24" @default.
• W2069000161 creator A5012494390 @default.
• W2069000161 creator A5026235423 @default.
• W2069000161 creator A5053174615 @default.
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• W2069000161 creator A5057434146 @default.
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• W2069000161 creator A5078410289 @default.
• W2069000161 creator A5085873463 @default.
• W2069000161 creator A5089060602 @default.
• W2069000161 date "2012-11-19" @default.
• W2069000161 modified "2023-10-16" @default.
• W2069000161 title "Clinical geneticists' views of VACTERL/VATER association" @default.
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