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

Published in:	JCRPE
Main Authors:	Sol Kang, Young Kyung Kang, Jun Ah Lee, Dong Ho Kim, Jung Sub Lim
Format:	Article
Language:	English
Published:	Pediatric Endocrinology and Diabetes Society 2019-12-01
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