A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

S.A. de Munnik; S. García-Miñaúr; A. Hoischen; B.W. van Bon; K.M. Boycott; J. Schoots; L.H. Hoefsloot; V.V.A.M. Knoers; E.M.H.F. Bongers; H.G. Brunner

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Translated title of the contribution: A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

S.A. de Munnik, S. García-Miñaúr, A. Hoischen, B.W. van Bon, K.M. Boycott, J. Schoots, L.H. Hoefsloot, V.V.A.M. Knoers, E.M.H.F. Bongers, H.G. Brunner

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

Translated title of the contribution	A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome
Original language	Undefined/Unknown
Pages (from-to)	844-846
Number of pages	3
Journal	European Journal of Human Genetics
Volume	22
Issue number	6
Publication status	Published - 2014

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http://www.nature.com/ejhg/journal/v22/n6/full/ejhg2013249a.html

Cite this

de Munnik, S. A., García-Miñaúr, S., Hoischen, A., van Bon, B. W., Boycott, K. M., Schoots, J., Hoefsloot, L. H., Knoers, V. V. A. M., Bongers, E. M. H. F., & Brunner, H. G. (2014). A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. European Journal of Human Genetics, 22(6), 844-846. http://www.nature.com/ejhg/journal/v22/n6/full/ejhg2013249a.html

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title = "A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome",

author = "{de Munnik}, S.A. and S. Garc{\'i}a-Mi{\~n}a{\'u}r and A. Hoischen and {van Bon}, B.W. and K.M. Boycott and J. Schoots and L.H. Hoefsloot and V.V.A.M. Knoers and E.M.H.F. Bongers and H.G. Brunner",

year = "2014",

language = "Undefined/Unknown",

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journal = "European Journal of Human Genetics",

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de Munnik, SA, García-Miñaúr, S, Hoischen, A, van Bon, BW, Boycott, KM, Schoots, J, Hoefsloot, LH, Knoers, VVAM, Bongers, EMHF & Brunner, HG 2014, 'A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome', European Journal of Human Genetics, vol. 22, no. 6, pp. 844-846. <http://www.nature.com/ejhg/journal/v22/n6/full/ejhg2013249a.html>

TY - JOUR

T1 - A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

AU - de Munnik, S.A.

AU - García-Miñaúr, S.

AU - Hoischen, A.

AU - van Bon, B.W.

AU - Boycott, K.M.

AU - Schoots, J.

AU - Hoefsloot, L.H.

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

AU - Bongers, E.M.H.F.

AU - Brunner, H.G.

PY - 2014

Y1 - 2014

M3 - Article

SN - 1018-4813

VL - 22

SP - 844

EP - 846

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 6

ER -