Cargando…
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most re...
Autores principales: | Van Dijk, FS, Sillence, DO |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314691/ https://www.ncbi.nlm.nih.gov/pubmed/24715559 http://dx.doi.org/10.1002/ajmg.a.36545 |
Ejemplares similares
-
Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment
por: van Dijk, Fleur S, et al.
Publicado: (2015) -
Osteogenesis Imperfecta
por: Sam, Justin Easow, et al.
Publicado: (2017) -
Fatigue in adults with Osteogenesis Imperfecta
por: Harsevoort, Arjan G. J., et al.
Publicado: (2020) -
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
por: van Dijk, Fleur S, et al.
Publicado: (2012) -
Osteogenesis imperfecta
por: Vitturi, Bruno Kusznir, et al.
Publicado: (2018)