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Article

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

European journal of human genetics : EJHG - 1 Jun 2013

Marconi Caterina, Brunamonti Binello Paolo, Badiali Giovanni, Caci Emanuela, Cusano Roberto, Garibaldi Joseph, Pippucci Tommaso, Merlini Alberto, Marchetti Claudio, Rhoden Kerry J, Galietta Luis J V, Lalatta Faustina, Balbi Paolo, Seri Marco

Abstract excerpt

Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant syndrome characterized by frequent bone fractures at a young age, bowing of tubular bones and cemento-osseus lesions of the jawbones. Anoctamin 5 (ANO5) belongs to the anoctamin protein family that includes calcium-activated chloride channels. However, recent data together with our own experiments reported here add weight to the hypothesis that ANO5 may...

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Identifiers

PMID: 23047743
DOI: 10.1038/ejhg.2012.224
PMCID: PMC3658193

Genes

ANO5

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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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A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.PMID 23047743Read ↗

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