Cargando…
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families
BACKGROUND: Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an autosomal dominant skeletal disorder character...
Autores principales: | Jennes, Ivy, de Jong, Danielle, Mees, Kirsten, Hogendoorn, Pancras CW, Szuhai, Karoly, Wuyts, Wim |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152881/ https://www.ncbi.nlm.nih.gov/pubmed/21703028 http://dx.doi.org/10.1186/1471-2350-12-85 |
Ejemplares similares
-
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
por: Sarrión, P., et al.
Publicado: (2013) -
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas
por: Santos, Savana C. L., et al.
Publicado: (2018) -
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
por: Oliver, Gavin R., et al.
Publicado: (2019) -
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas
por: Ishimaru, Daichi, et al.
Publicado: (2016) -
Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes
por: Mohaidat, Ziyad, et al.
Publicado: (2021)