A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis an...

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Bibliographic Details
Main Authors: Sol Kang, Young Kyung Kang, Jun Ah Lee, Dong Ho Kim, Jung Sub Lim
Format: Article
Language:English
Published: Galenos Yayincilik 2019-12-01
Series:JCRPE
Subjects:
osteopetrosis
bone density
osteoclast
sclerosis
mutation
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/a-case-of-autosomal-dominant-osteopetrosis-type-2-/23618

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