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...

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Detalles Bibliográficos
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

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