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

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Bibliographic Details
Published inAmerican Journal of Medical Genetics Part A Vol. 149A; no. 10; pp. 2231 - 2235
Main Authors Hes, Frederik J., Madan, Kamlesh, Rombout-Liem, I. Shan, Szuhai, Karoly, Sørensen, Helena, van Amstel, Hans Kristian Ploos, Bakker, Egbert, Visser, Theo J., Smit, Johannes W., Hansson, Kerstin
Format Report
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.10.2009
Subjects
dicentric Y chromosome
hypogonadism
Mental retardation
thyroid hormone receptor beta (THRB) gene
Wilson disease
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Bibliography:istex:8F4ACF4278201021EAF80955E8D8508DE9DE2A8D
ark:/67375/WNG-38RCS91R-9
ArticleID:AJMG33004
How to Cite this Article: Hes FJ, Madan K, Rombout-Liem IS, Szuhai K, Sørensen H, van Amstel HKP, 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. Am J Med Genet Part A 149A:2231-2235.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33004