Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease

F.J. Hes; K. Madan; I.S. Rombout-Liem; K. Szuhai; H. Sorensen; H.K. van Amstel; E. Bakker; T.J. Visser; J.W. Smit; K. Hansson

Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease

Translated title of the contribution: Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease

F.J. Hes, K. Madan, I.S. Rombout-Liem, K. Szuhai, H. Sorensen, H.K. van Amstel, E. Bakker, T.J. Visser, J.W. Smit, K. Hansson

Department of Genetics

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

Translated title of the contribution	Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease
Original language	Undefined/Unknown
Pages (from-to)	2231-2235
Number of pages	5
Journal	American Journal of Medical Genetics. Part A
Volume	149A
Issue number	10
Publication status	Published - 2009

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)

Cite this

Hes, F. J., Madan, K., Rombout-Liem, I. S., Szuhai, K., Sorensen, H., van Amstel, H. K., Bakker, E., Visser, T. J., Smit, J. W., & Hansson, K. (2009). Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease. American Journal of Medical Genetics. Part A, 149A(10), 2231-2235.

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keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK)",

author = "F.J. Hes and K. Madan and I.S. Rombout-Liem and K. Szuhai and H. Sorensen and {van Amstel}, H.K. and E. Bakker and T.J. Visser and J.W. Smit and K. Hansson",

year = "2009",

language = "Undefined/Unknown",

volume = "149A",

pages = "2231--2235",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

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Hes, FJ, Madan, K, Rombout-Liem, IS, Szuhai, K, Sorensen, H, van Amstel, HK, Bakker, E, Visser, TJ, Smit, JW & Hansson, K 2009, 'Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease', American Journal of Medical Genetics. Part A, vol. 149A, no. 10, pp. 2231-2235.

Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease. / Hes, F.J.; Madan, K.; Rombout-Liem, I.S. et al.
In: American Journal of Medical Genetics. Part A, Vol. 149A, No. 10, 2009, p. 2231-2235.

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

TY - JOUR

T1 - Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease

AU - Hes, F.J.

AU - Madan, K.

AU - Rombout-Liem, I.S.

AU - Szuhai, K.

AU - Sorensen, H.

AU - van Amstel, H.K.

AU - Bakker, E.

AU - Visser, T.J.

AU - Smit, J.W.

AU - Hansson, K.

PY - 2009

Y1 - 2009

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

M3 - Article

SN - 1552-4825

VL - 149A

SP - 2231

EP - 2235

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 10

ER -