Dominant missense mutations in ABCC9 cause Cantú syndrome

M. Harakalova; J.J.T. van Harssel; P.A. Terhal; S. van Lieshout; K.J. Duran; I.J. Renkens; D.J. Amor; L.C. Wilson; E.P. Kirk; C.L. Turner; D. Shears; S. Garcia-Minaur; M.M. Lees; A. Ross; H. Venselaar; G. Vriend; H. Takanari; M.B. Rook; M.A.  van der Heyden; F.W. Asselbergs; J.M.P.J. Breur; M.E. Swinkels; I.J. Scurr; S.F. Smithson; V.V.A.M. Knoers; J.J. van der Smagt; I.J. Nijman; W.P. Kloosterman; M.M. van Haelst; G.W. van Haaften; E.P.J.G. Cuppen

doi:10.1038/ng.2324

Dominant missense mutations in ABCC9 cause Cantú syndrome

Translated title of the contribution: Dominant missense mutations in ABCC9 cause Cantú syndrome

M. Harakalova
, J.J.T. van Harssel
, P.A. Terhal
, S. van Lieshout
, K.J. Duran
, I.J. Renkens
, D.J. Amor
, L.C. Wilson
, E.P. Kirk
, C.L. Turner
, D. Shears
, S. Garcia-Minaur
, M.M. Lees
, A. Ross
, H. Venselaar
, G. Vriend
, H. Takanari
, M.B. Rook
, M.A. van der Heyden
, F.W. Asselbergs

J.M.P.J. Breur, M.E. Swinkels, I.J. Scurr, S.F. Smithson, V.V.A.M. Knoers, J.J. van der Smagt, I.J. Nijman, W.P. Kloosterman, M.M. van Haelst, G.W. van Haaften, E.P.J.G. Cuppen

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

Translated title of the contribution	Dominant missense mutations in ABCC9 cause Cantú syndrome
Original language	Undefined/Unknown
Pages (from-to)	793-796
Number of pages	4
Journal	Nature Genetics
Volume	44
Issue number	7
DOIs	https://doi.org/10.1038/ng.2324
Publication status	Published - 2012

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

10.1038/ng.2324

http://www.ncbi.nlm.nih.gov/pubmed?term=22610116

Cite this

Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K. J., Renkens, I. J., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L., Shears, D., Garcia-Minaur, S., Lees, M. M., Ross, A., Venselaar, H., Vriend, G., Takanari, H., Rook, M. B., van der Heyden, M. A., ... Cuppen, E. P. J. G. (2012). Dominant missense mutations in ABCC9 cause Cantú syndrome. Nature Genetics, 44(7), 793-796. https://doi.org/10.1038/ng.2324

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title = "Dominant missense mutations in ABCC9 cause Cant{\'u} syndrome",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "M. Harakalova and \{van Harssel\}, J.J.T. and P.A. Terhal and \{van Lieshout\}, S. and K.J. Duran and I.J. Renkens and D.J. Amor and L.C. Wilson and E.P. Kirk and C.L. Turner and D. Shears and S. Garcia-Minaur and M.M. Lees and A. Ross and H. Venselaar and G. Vriend and H. Takanari and M.B. Rook and \{van der Heyden\}, M.A. and F.W. Asselbergs and J.M.P.J. Breur and M.E. Swinkels and I.J. Scurr and S.F. Smithson and V.V.A.M. Knoers and \{van der Smagt\}, J.J. and I.J. Nijman and W.P. Kloosterman and \{van Haelst\}, M.M. and \{van Haaften\}, G.W. and E.P.J.G. Cuppen",

year = "2012",

doi = "10.1038/ng.2324",

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volume = "44",

pages = "793--796",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

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Harakalova, M, van Harssel, JJT, Terhal, PA, van Lieshout, S, Duran, KJ, Renkens, IJ, Amor, DJ, Wilson, LC, Kirk, EP, Turner, CL, Shears, D, Garcia-Minaur, S, Lees, MM, Ross, A, Venselaar, H, Vriend, G, Takanari, H, Rook, MB, van der Heyden, MA , Asselbergs, FW , Breur, JMPJ, Swinkels, ME, Scurr, IJ, Smithson, SF, Knoers, VVAM, van der Smagt, JJ, Nijman, IJ, Kloosterman, WP, van Haelst, MM, van Haaften, GW & Cuppen, EPJG 2012, 'Dominant missense mutations in ABCC9 cause Cantú syndrome', Nature Genetics, vol. 44, no. 7, pp. 793-796. https://doi.org/10.1038/ng.2324

TY - JOUR

T1 - Dominant missense mutations in ABCC9 cause Cantú syndrome

AU - Harakalova, M.

AU - van Harssel, J.J.T.

AU - Terhal, P.A.

AU - van Lieshout, S.

AU - Duran, K.J.

AU - Renkens, I.J.

AU - Amor, D.J.

AU - Wilson, L.C.

AU - Kirk, E.P.

AU - Turner, C.L.

AU - Shears, D.

AU - Garcia-Minaur, S.

AU - Lees, M.M.

AU - Ross, A.

AU - Venselaar, H.

AU - Vriend, G.

AU - Takanari, H.

AU - Rook, M.B.

AU - van der Heyden, M.A.

AU - Asselbergs, F.W.

AU - Breur, J.M.P.J.

AU - Swinkels, M.E.

AU - Scurr, I.J.

AU - Smithson, S.F.

AU - Knoers, V.V.A.M.

AU - van der Smagt, J.J.

AU - Nijman, I.J.

AU - Kloosterman, W.P.

AU - van Haelst, M.M.

AU - van Haaften, G.W.

AU - Cuppen, E.P.J.G.

PY - 2012

Y1 - 2012

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

U2 - 10.1038/ng.2324

DO - 10.1038/ng.2324

M3 - Article

SN - 1061-4036

VL - 44

SP - 793

EP - 796

JO - Nature Genetics

JF - Nature Genetics

IS - 7

ER -