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...

Full description

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

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1096770/full

Similar Items