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Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome
Background and purpose Periosteal new bone formation and cortical hyperostosis often suggest an initial diagnosis of bone malignancy or osteomyelitis. In the present study, we investigated the cause of persistent bone hyperostosis in the offspring of two consanguineous parents. Methods Clinical asse...
Autores principales: | Gok, Faysal, Chefetz, Ilana, Indelman, Margarita, Kocaoglu, Murat, Sprecher, Eli |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Informa Healthcare
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823226/ https://www.ncbi.nlm.nih.gov/pubmed/19297793 http://dx.doi.org/10.1080/17453670902807482 |
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