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Papers of the Week


2020 Feb


J Endocrinol Invest


43


2

Clinical and genetic analysis of idiopathic normophosphatemic tumoral calcinosis in 19 patients.

Authors

Zuo Q-Y, Cao X, Liu B-Y, Yan D, Xin Z, Niu X-H, Li C, Deng W, Dong Z-Y, Yang J-K
J Endocrinol Invest. 2020 Feb; 43(2):173-183.
PMID: 31535357.

Abstract

Tumoral calcinosis is a rare clinicopathological entity characterized by ectopic soft-tissue calcification, typically periarticular. Normophosphatemic tumoral calcinosis is seldom reported in East Asian populations, and the preoperative diagnosis is often elusive. This study was performed to characterize the clinical profile of normophosphatemic tumoral calcinosis and investigate the presence of the SAMD9 gene mutation.