HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

Cranio-osteoarthropathy, clinically classified as a variant of primary hypertrophic osteoarthropathy, is a very rare autosomal-recessive condition characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Recently, mutations in the gene HP...

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Autores principales: Seifert, Wenke, Beninde, Julia, Hoffmann, Katrin, Lindner, Tom H, Bassir, Christian, Aksu, Fuat, Hübner, Christoph, Verbeek, Nienke E, Mundlos, Stefan, Horn, Denise
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987025/
https://ncbi.nlm.nih.gov/pubmed/19568269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.104
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