Article
HRPT2- (CDC73) RELATED HEREDITARY HYPERPARATHYROIDISM: A CASE SERIES FROM WESTERN INDIA.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Sept 2015
Khadilkar Kranti S, Budyal Sweta R, Kasliwal Rajiv, Lila Anurag R, Bandgar Tushar, Shah Nalini S
Abstract excerpt
OBJECTIVE: To describe a case series of HRPT2- (CDC73) related hereditary primary hyperparathyroidism (PHPT) from western India. METHODS: We present a case series of 4 families (7 patients) with PHPT caused by CDC73 gene mutations. RESULTS: The mean age of presentation of the 4 index cases was 27.25 ± 9.8 years. Two family members were identified through biochemical screening (Cases 1b and 2b), while 1...
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