Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

Abstract Background Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by biallelic variants of the TCIRG1 and CLCN7 genes. Method...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
Acceso en línea:https://doaj.org/article/b081c2e76e334c6e83a804ab1ec8098b
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares