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Article

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

Molecular pain - 1 Jan 2016

Deng Hao, He Dan, Rong Pengfei, Xu Hongbo, Yuan Lamei, Li Liu, Lu Qian, Guo Yi

Abstract excerpt

Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder in the family but...

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Source

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Identifiers

PMID: 27325559
DOI: 10.1177/1744806916652628
PMCID: PMC4955969

Genes

CLCN7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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