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Article

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

Gene - 15 Jan 2016

Zeng Binghui, Li Ru, Hu Yuelin, Hu Bin, Zhao Qiang, Liu Huijiao, Yuan Ping, Wang Yiming

Abstract excerpt

Osteopetrosis is a group of heterogeneous disorders caused by the dysfunction of osteoclasts. The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO). IMO patients usually die in infancy or before three years of age. In this study, we report a patient who was diagnosed with IMO at seven months of age. The patient presented with classical radiological...

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Source

Identifiers

PMID: 26477479
DOI: 10.1016/j.gene.2015.10.021

Genes

CLCN7
TCIRG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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