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

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...

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Bibliographic Details
Main Authors: Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang
Format: Article
Language:English
Published: Wiley 2021-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autosomal recessive osteopetrosis
cDNA sequencing
CLCN7
novel variant
TCIRG1
Online Access:https://doi.org/10.1002/mgg3.1815

Internet

https://doi.org/10.1002/mgg3.1815

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