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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...

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Detalles Bibliográficos
Autores principales: Gok, Faysal, Chefetz, Ilana, Indelman, Margarita, Kocaoglu, Murat, Sprecher, Eli
Formato: Texto
Lenguaje:English
Publicado: Informa Healthcare 2009
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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