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Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome

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Presentation on theme: "Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome"— Presentation transcript:

1 Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome
E. Belloni, G. Martucciello, D. Verderio, E. Ponti, M. Seri, V. Jasonni, M. Torre, M. Ferrari, L.-C. Tsui, S.W. Scherer  The American Journal of Human Genetics  Volume 66, Issue 1, Pages (January 2000) DOI: /302723 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

2 Figure 1 a, ARM with total sacral agenesis and L5 hypoplasia in patient 020. b, Distal cologram, showing presence of a rectobulbar fistula. c and d, Hemisacrum as observed in CS (c) and in patient 015 (d). The MRI shows the presence of the anterior meningocele (AM). The American Journal of Human Genetics  , DOI: ( /302723) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Example of DG-DGGE (a) and direct DNA sequencing (b). a, Lanes A and B, Replicated samples frm patient 060. Lanes C and D, Controls. b, Electrophoregram showing two peaks (marked with an asterisk [*]) at the T248S mutation in patient 060. The American Journal of Human Genetics  , DOI: ( /302723) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

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