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Article

A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2017

Rolvien Tim, Koehne Till, Kornak Uwe, Lehmann Wolfgang, Amling Michael, Schinke Thorsten, Oheim Ralf

Abstract excerpt

Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome that involves an osteopetrosis-like sclerosis of the long bones and fibrous dysplasia-like cemento-osseous lesions of the jawbone. Although the genetic analysis of the respective patients has revealed mutations in the ANO5 gene as an underlying cause, there is still no established consensus regarding the bone status of GDD patients. We report a new case...

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Source

Identifiers

PMID: 27541832
DOI: 10.1002/jbmr.2980

Genes

ANO5

Variants

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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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