Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B

Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations in CDKN1B and...

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Vydáno v:Case Rep Endocrinol
Hlavní autoři: Elston, Marianne S., Meyer-Rochow, Goswin Y., Dray, Michael, Swarbrick, Michael, Conaglen, John V.
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4516819/
https://ncbi.nlm.nih.gov/pubmed/26257968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/510985
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