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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1007/s11214-006-9004-2

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1435-232X

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Clinical and genetic analysis of iHLXB9/i gene

Authors: InSuk Kim Sooyoung Oh SukJoo Choi JongHwa Kim Kwan Hyun Park HyunKyung Park JongWon Kim ChangSeok Ki
Publish Date: 2007/08
Volume: 52, Issue: 8, Pages: 698-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptCurrarino syndrome CS is a rare autosomal dominant disease that has been described as a triad of partial sacral agenesis anorectal anomalies and a presacral mass Mutations in the HLXB9 gene have been suggested to be the genetic background of CS In this study sequence analysis of the HLXB9 gene was performed in two familial and two sporadic Korean patients showing the clinical features of CS and two mutations in the HLXB9 gene were identified only in the two familial cases One mutation R295W has been reported previously and the other H260 Q261delinsLELLELE is novel Consistent with previous observations the phenotypic expression of the mutation carriers in the CS families varies from mild to severe including the complete triad This study confirms that familial CS patients in Korea have the same genetic background as other ethnicities and reaffirms the phenotype variability among CS patients with the same mutation

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