X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face

M. Harakalova; M.J.H. van den Boogaard; R.J. Sinke; S. van Lieshout; M. van Tuil; K.J. Duran; I.J. Renkens; P.A. Terhal; C.G.F. de Kovel; I.J. Nijman; M.M. van Haelst; Nine Knoers; G.W. van Haaften; W.P. Kloosterman; R.C. Hennekam; E.P.J.G. Cuppen; J.K. Ploos van Amstel

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face

Translated title of the contribution: X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face

M. Harakalova
, M.J.H. van den Boogaard
, R.J. Sinke
, S. van Lieshout
, M. van Tuil
, K.J. Duran
, I.J. Renkens
, P.A. Terhal
, C.G.F. de Kovel
, I.J. Nijman
, M.M. van Haelst
, Nine Knoers
, G.W. van Haaften
, W.P. Kloosterman
, R.C. Hennekam
, E.P.J.G. Cuppen
, J.K. Ploos van Amstel

Research output: Contribution to conference › Poster › Other research output

Translated title of the contribution	X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face
Original language	Undefined/Unknown
Publication status	Published - 23 Jun 2012
Event	European Society of Human Genetics Meeting 2012 (ESHG 2012) - Neurenberg, Duitsland Duration: 23 Jun 2012 → 26 Jun 2012

Conference

Conference	European Society of Human Genetics Meeting 2012 (ESHG 2012)
City	Neurenberg, Duitsland
Period	23/06/12 → 26/06/12

Keywords

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

Cite this

Harakalova, M., van den Boogaard, M. J. H., Sinke, R. J., van Lieshout, S., van Tuil, M., Duran, K. J., Renkens, I. J., Terhal, P. A., de Kovel, C. G. F., Nijman, I. J., van Haelst, M. M., Knoers, N., van Haaften, G. W., Kloosterman, W. P., Hennekam, R. C., Cuppen, E. P. J. G., & Ploos van Amstel, J. K. (2012). X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face. Poster session presented at European Society of Human Genetics Meeting 2012 (ESHG 2012), Neurenberg, Duitsland.

@conference{11c0c08bb54945a2a846c3ca8c49e4a4,

title = "X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face",

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

author = "M. Harakalova and \{van den Boogaard\}, M.J.H. and R.J. Sinke and \{van Lieshout\}, S. and \{van Tuil\}, M. and K.J. Duran and I.J. Renkens and P.A. Terhal and \{de Kovel\}, C.G.F. and I.J. Nijman and \{van Haelst\}, M.M. and Nine Knoers and \{van Haaften\}, G.W. and W.P. Kloosterman and R.C. Hennekam and E.P.J.G. Cuppen and \{Ploos van Amstel\}, J.K.",

note = "European Society of Human Genetics Meeting 2012 (ESHG 2012); European Society of Human Genetics Meeting 2012 (ESHG 2012) ; Conference date: 23-06-2012 Through 26-06-2012",

year = "2012",

month = jun,

day = "23",

language = "Undefined/Unknown",

}

Harakalova, M , van den Boogaard, MJH, Sinke, RJ, van Lieshout, S, van Tuil, M, Duran, KJ, Renkens, IJ, Terhal, PA, de Kovel, CGF, Nijman, IJ, van Haelst, MM, Knoers, N, van Haaften, GW, Kloosterman, WP, Hennekam, RC, Cuppen, EPJG & Ploos van Amstel, JK 2012, 'X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face', European Society of Human Genetics Meeting 2012 (ESHG 2012), Neurenberg, Duitsland, 23/06/12 - 26/06/12.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face. / Harakalova, M.; van den Boogaard, M.J.H.; Sinke, R.J. et al.
2012. Poster session presented at European Society of Human Genetics Meeting 2012 (ESHG 2012), Neurenberg, Duitsland.

Research output: Contribution to conference › Poster › Other research output

TY - CONF

T1 - X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face

AU - Harakalova, M.

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

AU - Sinke, R.J.

AU - van Lieshout, S.

AU - van Tuil, M.

AU - Duran, K.J.

AU - Renkens, I.J.

AU - Terhal, P.A.

AU - de Kovel, C.G.F.

AU - Nijman, I.J.

AU - van Haelst, M.M.

AU - Knoers, Nine

AU - van Haaften, G.W.

AU - Kloosterman, W.P.

AU - Hennekam, R.C.

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

AU - Ploos van Amstel, J.K.

N1 - European Society of Human Genetics Meeting 2012 (ESHG 2012)

PY - 2012/6/23

Y1 - 2012/6/23

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Poster

T2 - European Society of Human Genetics Meeting 2012 (ESHG 2012)

Y2 - 23 June 2012 through 26 June 2012

ER -

Harakalova M , van den Boogaard MJH, Sinke RJ, van Lieshout S, van Tuil M, Duran KJ et al.. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face. 2012. Poster session presented at European Society of Human Genetics Meeting 2012 (ESHG 2012), Neurenberg, Duitsland.