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...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Yu, Zhou, Lina, Guan, Xianmin, Wen, Xianhao, Yu, Jie, Dou, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043213/
https://www.ncbi.nlm.nih.gov/pubmed/36999084
http://dx.doi.org/10.3389/fped.2023.1096770

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043213/
https://www.ncbi.nlm.nih.gov/pubmed/36999084
http://dx.doi.org/10.3389/fped.2023.1096770

Ejemplares similares