Article
CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma.
The Journal of clinical endocrinology and metabolism - 1 Sept 2014
Korpi-Hyövälti Eeva, Cranston Treena, Ryhänen Eeva, Arola Johanna, Aittomäki Kristiina, Sane Timo, Thakker Rajesh V, Schalin-Jäntti Camilla
Abstract excerpt
CONTEXT: CDC73 mutations frequently underlie the hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism (FIHP), and parathyroid carcinoma. It has also been suggested that CDC73 deletion analysis should be performed in those patients without CDC73 mutations. OBJECTIVE: To investigate for CDC73 deletion in a family with FIHP previously reported not to have CDC73 mutations. PATIENTS AND...
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