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
Frederik J. Hes, Kamlesh Madan, I. Shan Rombout-Liem, Karoly Szuhai, Helena Sørensen, Hans Kristian Ploos van Amstel, Egbert Bakker, Theo J. Visser, Johannes W. Smit, Kerstin HanssonVolume:
149A
Year:
2009
Language:
english
Pages:
5
DOI:
10.1002/ajmg.a.33004
File:
PDF, 109 KB
english, 2009