Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Wilson disease

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Hypogonadism

A decreased functionality of the gonad.

Total: 1

(per page)

PMID (PMCID)
19725132	MALE	Young Adult
	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 FJ, Madan K, Rombout-Liem IS, Szuhai K, Sorensen H, van Amstel HK, Bakker E, Visser TJ, Smit JW, Hansson K. Am J Med Genet A. 2009;149A(10):2231-5.
	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.