Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

G. Beunders; S.A. de Munnik; N.E. van der Aa; B. Ceulemans; E. Voorhoeve; A.J.A. Groffen; W.M. Nillesen; E.J. Meijers-Heijboer; F.R. Kooy; H.G. Yntema; E.A. Sistermans

doi:10.1038/ejhg.2014.173

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

G. Beunders, S.A. de Munnik, N.E. van der Aa, B. Ceulemans, E. Voorhoeve, A.J.A. Groffen, W.M. Nillesen, E.J. Meijers-Heijboer, F.R. Kooy, H.G. Yntema, E.A. Sistermans

Human genetics

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

Original language	Undefined/Unknown
Pages (from-to)	803-807
Journal	European Journal of Human Genetics
Volume	23
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2014.173
Publication status	Published - 2015

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10.1038/ejhg.2014.173

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Beunders, G., de Munnik, S. A., van der Aa, N. E., Ceulemans, B., Voorhoeve, E., Groffen, A. J. A., Nillesen, W. M., Meijers-Heijboer, E. J., Kooy, F. R., Yntema, H. G., & Sistermans, E. A. (2015). Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. European Journal of Human Genetics, 23(6), 803-807. https://doi.org/10.1038/ejhg.2014.173

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title = "Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome",

author = "G. Beunders and {de Munnik}, S.A. and {van der Aa}, N.E. and B. Ceulemans and E. Voorhoeve and A.J.A. Groffen and W.M. Nillesen and E.J. Meijers-Heijboer and F.R. Kooy and H.G. Yntema and E.A. Sistermans",

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Beunders, G, de Munnik, SA, van der Aa, NE, Ceulemans, B, Voorhoeve, E, Groffen, AJA, Nillesen, WM, Meijers-Heijboer, EJ, Kooy, FR, Yntema, HG & Sistermans, EA 2015, 'Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome', European Journal of Human Genetics, vol. 23, no. 6, pp. 803-807. https://doi.org/10.1038/ejhg.2014.173

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T1 - Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

AU - Beunders, G.

AU - de Munnik, S.A.

AU - van der Aa, N.E.

AU - Ceulemans, B.

AU - Voorhoeve, E.

AU - Groffen, A.J.A.

AU - Nillesen, W.M.

AU - Meijers-Heijboer, E.J.

AU - Kooy, F.R.

AU - Yntema, H.G.

AU - Sistermans, E.A.

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DO - 10.1038/ejhg.2014.173

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EP - 807

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 6

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