Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene

Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia (FOD) in the jaws, bone fragility, and diaphyseal cortical thickening and bowing of long bones. We present a family with previously undiagnosed GDD. The disorder was identified by the cha...

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Publicado no:Oral Surg Oral Med Oral Pathol Oral Radiol
Main Authors: Duong, Hannah A., Le, Karen T., Soulema, Albert L., Yueh, Ronald H., Scheuner, Maren T., Holick, Michael F., Christensen, Russell, Tajima, Tracey L., Leung, Angela M., Mallya, Sanjay M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4830924/
https://ncbi.nlm.nih.gov/pubmed/27068316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.oooo.2016.01.014
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