Hyperparathyroidism Genetics
Studies from G. Masi et al further understanding of hyperparathyroidism genetics
Published in Cancer Weekly, February 10th, 2009
New investigation results, 'Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism,' are detailed in a study published in Endocrine-related Cancer. "CDC73 (HRPT2) germline mutations are responsible for more than half of cases of hyperparathyroidism-jaw tumor syndrome (HPT-JT) and for a subset of familial isolated HPT (FIHP). We performed a clinical, genetic, and histopathologic study in three unrelated Italian kindreds with HPT-JT and FIHP," scientists in Padova, Italy report.
"We identified three germline inactivating mutations of the CDC73 gene in the probands and affected patients of the three kindreds, but also in...
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Source: Cancer Weekly (2009-02-10)
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