A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects

Multicentric osteolysis with nodulosis and arthropathy (MONA, NAO (OMIM no. 605156)) is an autosomal recessive member of the ‘vanishing bone' syndromes and is notable for the extent of carpal and tarsal osteolysis and interphalangeal joint erosions, facial dysmorphia, and the presence of fibroc...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Tuysuz, Beyhan, Mosig, Rebecca, Altun, Gürkan, Sancak, Selim, Glucksman, Marc J, Martignetti, John A
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2721823/
https://ncbi.nlm.nih.gov/pubmed/18985071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.204
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares