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

J.K. Ploos van Amstel; M. Harakalová; 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; V.V.A.M. Knoers; G.W. van Haaften; W.P. Kloosterman; R.C. Hennekam; E.P.J.G. Cuppen

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

J.K. Ploos van Amstel
, M. Harakalová
, 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
, V.V.A.M. Knoers
, G.W. van Haaften
, W.P. Kloosterman
, R.C. Hennekam
, E.P.J.G. Cuppen

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 - 6 Nov 2012
Event	American Society of Human Genetics Meeting 2012 (ASHG 2012) - San Francisco, Ca, USA Duration: 6 Nov 2012 → 10 Nov 2012

Conference

Conference	American Society of Human Genetics Meeting 2012 (ASHG 2012)
City	San Francisco, Ca, USA
Period	6/11/12 → 10/11/12

Keywords

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

Cite this

Ploos van Amstel, J. K., Harakalová, 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, V. V. A. M., van Haaften, G. W., Kloosterman, W. P., Hennekam, R. C., & Cuppen, E. P. J. G. (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 American Society of Human Genetics Meeting 2012 (ASHG 2012), San Francisco, Ca, USA.

@conference{fc1f48d5612b4bb49148d084a1314cd0,

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 = "\{Ploos van Amstel\}, J.K. and M. Harakalov{\'a} 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 V.V.A.M. Knoers and \{van Haaften\}, G.W. and W.P. Kloosterman and R.C. Hennekam and E.P.J.G. Cuppen",

note = "American Society of Human Genetics Meeting 2012 (ASHG 2012); American Society of Human Genetics Meeting 2012 (ASHG 2012) ; Conference date: 06-11-2012 Through 10-11-2012",

year = "2012",

month = nov,

day = "6",

language = "Undefined/Unknown",

}

Ploos van Amstel, JK , Harakalová, 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, VVAM, van Haaften, GW, Kloosterman, WP, Hennekam, RC & Cuppen, EPJG 2012, 'X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face', American Society of Human Genetics Meeting 2012 (ASHG 2012), San Francisco, Ca, USA, 6/11/12 - 10/11/12.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face. / Ploos van Amstel, J.K.; Harakalová, M.; van den Boogaard, M.J.H. et al.
2012. Poster session presented at American Society of Human Genetics Meeting 2012 (ASHG 2012), San Francisco, Ca, USA.

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 - Ploos van Amstel, J.K.

AU - Harakalová, 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, V.V.A.M.

AU - van Haaften, G.W.

AU - Kloosterman, W.P.

AU - Hennekam, R.C.

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

N1 - American Society of Human Genetics Meeting 2012 (ASHG 2012)

PY - 2012/11/6

Y1 - 2012/11/6

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Poster

T2 - American Society of Human Genetics Meeting 2012 (ASHG 2012)

Y2 - 6 November 2012 through 10 November 2012

ER -

Ploos van Amstel JK , Harakalová M , van den Boogaard MJH, Sinke RJ, van Lieshout S, van Tuil M 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 American Society of Human Genetics Meeting 2012 (ASHG 2012), San Francisco, Ca, USA.