Article
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
Molecular medicine reports - 1 Apr 2014
Yu Tingting, Yu Yongguo, Wang Jian, Yin Lei, Zhou Yunfang, Ying Daming, Huang Rongkui, Chen Huijin, Wu Shenmei, Shen Yongnian, Fu Qihua, Chen Fuxiang
Abstract excerpt
Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical heterogeneity, and is caused by defective osteoclastic resorption. The three main forms are the autosomal recessive severe (ARO), the intermediate autosomal and the autosomal dominant benign osteopetrosis forms. In the present study, the clinical, biochemical and radiological manifestations were described in a patient with...
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