Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis

Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis

Osteopetrosis is characterized by increased bone density caused by decreased osteoclasts or dysfunction of their differentiation and absorption properties, usually caused by biallelic variants of the TCIRG1(OMIM:604592)and CLCN7(OMIM:602727) genes. Herein, the clinical, biochemical, and radiological...

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Bibliographic Details
Main Authors:	Yu Chen, Lina Zhou, Xianmin Guan, Xianhao Wen, Jie Yu, Ying Dou
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-03-01
Series:	Frontiers in Pediatrics
Subjects:	osteopetrosis CLCN7 TCIRG1 mutation variants
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2023.1096770/full

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