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Article

A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.

European journal of pediatrics - 1 Dec 2009

Besbas Nesrin, Draaken Markus, Ludwig Michael, Deren Ozgur, Orhan Diclehan, Bilginer Yelda, Ozaltin Fatih

Abstract excerpt

Osteopetrosis is a bone disease characterized by osteoclast failure and impaired bone resorption. Genetically, it is classified in three forms with autosomal recessive (ARO), autosomal dominant, and intermediate autosomal recessive inheritance, respectively. Some ARO forms are also associated with primary neurodegeneration, retinal atrophy, and lysosomal storage, which are caused by CLCN7 and OSTM1 gene...

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Source

Identifiers

PMID: 19238435
DOI: 10.1007/s00431-009-0945-9

Genes

CLCN7
OSTM1

Variants

Provenance

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

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A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.PMID 19238435Read ↗

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