Source:http://linkedlifedata.com/resource/pubmed/id/21652691
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2011-8-12
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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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1479-683X
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
165
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
477-83
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pubmed:meshHeading |
pubmed-meshheading:21652691-Adult,
pubmed-meshheading:21652691-Aged,
pubmed-meshheading:21652691-DNA Mutational Analysis,
pubmed-meshheading:21652691-Female,
pubmed-meshheading:21652691-Germ-Line Mutation,
pubmed-meshheading:21652691-Humans,
pubmed-meshheading:21652691-Hyperparathyroidism,
pubmed-meshheading:21652691-Male,
pubmed-meshheading:21652691-Middle Aged,
pubmed-meshheading:21652691-Parathyroid Neoplasms,
pubmed-meshheading:21652691-Pedigree,
pubmed-meshheading:21652691-Tumor Suppressor Proteins
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pubmed:year |
2011
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pubmed:articleTitle |
CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum.
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pubmed:affiliation |
Endocrine Practice, Molecular Laboratory, Brückenstr.21, 69120 Heidelberg, Germany. karin.frankraue@raue-endokrinologie.de
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pubmed:publicationType |
Journal Article
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