MLL2 mutation spectrum in 45 patients with Kabuki syndrome

A.D. Paulussen; A.P. Stegmann; M.J. Blok; D. Tserpelis; C. Posma-Velter; Y. Detisch; E.E. Smeets; A. Wagemans; J.J. Schrander; M.J.H. van den Boogaard; J.J. van der Smagt; A. van Haeringen; I. Stolte-Dijkstra; W.S. Kerstjens-Frederikse; G.M. Mancini; M.W. Wessels; R.C. Hennekam; M. Vreeburg; J. Geraedts; T. de Ravel; J.P. Fryns; H.J. Smeets; K. Devriendt; C.T.R.M. Schrander-Stumpel

doi:10.1002/humu.21416

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Translated title of the contribution: MLL2 mutation spectrum in 45 patients with Kabuki syndrome

A.D. Paulussen, A.P. Stegmann, M.J. Blok, D. Tserpelis, C. Posma-Velter, Y. Detisch, E.E. Smeets, A. Wagemans, J.J. Schrander, M.J.H. van den Boogaard, J.J. van der Smagt, A. van Haeringen, I. Stolte-Dijkstra, W.S. Kerstjens-Frederikse, G.M. Mancini, M.W. Wessels, R.C. Hennekam, M. Vreeburg, J. Geraedts, T. de RavelJ.P. Fryns, H.J. Smeets, K. Devriendt, C.T.R.M. Schrander-Stumpel

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

Translated title of the contribution	MLL2 mutation spectrum in 45 patients with Kabuki syndrome
Original language	Undefined/Unknown
Pages (from-to)	E2018-E2025
Number of pages	8
Journal	Human Mutation
Volume	32
Issue number	2
DOIs	https://doi.org/10.1002/humu.21416
Publication status	Published - 2011

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10.1002/humu.21416

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Paulussen, A. D., Stegmann, A. P., Blok, M. J., Tserpelis, D., Posma-Velter, C., Detisch, Y., Smeets, E. E., Wagemans, A., Schrander, J. J., van den Boogaard, M. J. H., van der Smagt, J. J., van Haeringen, A., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Mancini, G. M., Wessels, M. W., Hennekam, R. C., Vreeburg, M., Geraedts, J., ... Schrander-Stumpel, C. T. R. M. (2011). MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Human Mutation, 32(2), E2018-E2025. https://doi.org/10.1002/humu.21416

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title = "MLL2 mutation spectrum in 45 patients with Kabuki syndrome",

author = "A.D. Paulussen and A.P. Stegmann and M.J. Blok and D. Tserpelis and C. Posma-Velter and Y. Detisch and E.E. Smeets and A. Wagemans and J.J. Schrander and {van den Boogaard}, M.J.H. and {van der Smagt}, J.J. and {van Haeringen}, A. and I. Stolte-Dijkstra and W.S. Kerstjens-Frederikse and G.M. Mancini and M.W. Wessels and R.C. Hennekam and M. Vreeburg and J. Geraedts and {de Ravel}, T. and J.P. Fryns and H.J. Smeets and K. Devriendt and C.T.R.M. Schrander-Stumpel",

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volume = "32",

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Paulussen, AD, Stegmann, AP, Blok, MJ, Tserpelis, D, Posma-Velter, C, Detisch, Y, Smeets, EE, Wagemans, A, Schrander, JJ, van den Boogaard, MJH , van der Smagt, JJ, van Haeringen, A, Stolte-Dijkstra, I, Kerstjens-Frederikse, WS, Mancini, GM, Wessels, MW, Hennekam, RC, Vreeburg, M, Geraedts, J, de Ravel, T, Fryns, JP, Smeets, HJ, Devriendt, K & Schrander-Stumpel, CTRM 2011, 'MLL2 mutation spectrum in 45 patients with Kabuki syndrome', Human Mutation, vol. 32, no. 2, pp. E2018-E2025. https://doi.org/10.1002/humu.21416

TY - JOUR

T1 - MLL2 mutation spectrum in 45 patients with Kabuki syndrome

AU - Paulussen, A.D.

AU - Stegmann, A.P.

AU - Blok, M.J.

AU - Tserpelis, D.

AU - Posma-Velter, C.

AU - Detisch, Y.

AU - Smeets, E.E.

AU - Wagemans, A.

AU - Schrander, J.J.

AU - van den Boogaard, M.J.H.

AU - van der Smagt, J.J.

AU - van Haeringen, A.

AU - Stolte-Dijkstra, I.

AU - Kerstjens-Frederikse, W.S.

AU - Mancini, G.M.

AU - Wessels, M.W.

AU - Hennekam, R.C.

AU - Vreeburg, M.

AU - Geraedts, J.

AU - de Ravel, T.

AU - Fryns, J.P.

AU - Smeets, H.J.

AU - Devriendt, K.

AU - Schrander-Stumpel, C.T.R.M.

PY - 2011

Y1 - 2011

U2 - 10.1002/humu.21416

DO - 10.1002/humu.21416

M3 - Article

C2 - 21280141

SN - 1059-7794

VL - 32

SP - E2018-E2025

JO - Human Mutation

JF - Human Mutation

IS - 2

ER -