Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-8-12
pubmed:abstractText
Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of benign and malignant parathyroid tumours, ossifying jaw tumours, various cystic and neoplastic renal abnormalities and benign and malignant uterine tumours. Disease-causing mutations have been localised in the tumour suppressor gene CDC73. There is limited information available on the mutations, and resulting phenotypes and long-term follow-up data are especially scarce.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1479-683X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
165
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
477-83
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum.
pubmed:affiliation
Endocrine Practice, Molecular Laboratory, Brückenstr.21, 69120 Heidelberg, Germany. karin.frankraue@raue-endokrinologie.de
pubmed:publicationType
Journal Article