An unanticipated copy number variant ofchromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Y. Hilhorst-Hofstee; A.J.H.A. Scholte; M.E.B. Rijlaarsdam; A. van Haeringen; L.J. Kroft; M. Reijnierse; C.A.L. Ruivenkamp; M.I.M. Versteegh; G. Pals; M.H. Breuning

doi:10.1111/j.1399-0004.2012.01931.x

An unanticipated copy number variant ofchromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Y. Hilhorst-Hofstee, A.J.H.A. Scholte, M.E.B. Rijlaarsdam, A. van Haeringen, L.J. Kroft, M. Reijnierse, C.A.L. Ruivenkamp, M.I.M. Versteegh, G. Pals, M.H. Breuning

Human genetics

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	337-344
Journal	Clinical Genetics
Volume	83
Issue number	4
DOIs	https://doi.org/10.1111/j.1399-0004.2012.01931.x
Publication status	Published - 2013

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10.1111/j.1399-0004.2012.01931.x

Cite this

Hilhorst-Hofstee, Y., Scholte, A. J. H. A., Rijlaarsdam, M. E. B., van Haeringen, A., Kroft, L. J., Reijnierse, M., Ruivenkamp, C. A. L., Versteegh, M. I. M., Pals, G., & Breuning, M. H. (2013). An unanticipated copy number variant ofchromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection. Clinical Genetics, 83(4), 337-344. https://doi.org/10.1111/j.1399-0004.2012.01931.x

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author = "Y. Hilhorst-Hofstee and A.J.H.A. Scholte and M.E.B. Rijlaarsdam and {van Haeringen}, A. and L.J. Kroft and M. Reijnierse and C.A.L. Ruivenkamp and M.I.M. Versteegh and G. Pals and M.H. Breuning",

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Hilhorst-Hofstee, Y, Scholte, AJHA, Rijlaarsdam, MEB, van Haeringen, A, Kroft, LJ, Reijnierse, M, Ruivenkamp, CAL, Versteegh, MIM, Pals, G & Breuning, MH 2013, 'An unanticipated copy number variant ofchromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection', Clinical Genetics, vol. 83, no. 4, pp. 337-344. https://doi.org/10.1111/j.1399-0004.2012.01931.x

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AU - Scholte, A.J.H.A.

AU - Rijlaarsdam, M.E.B.

AU - van Haeringen, A.

AU - Kroft, L.J.

AU - Reijnierse, M.

AU - Ruivenkamp, C.A.L.

AU - Versteegh, M.I.M.

AU - Pals, G.

AU - Breuning, M.H.

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