Osteogenesis Imperfecta Due to Compound Heterozygosity for the LEPRE1 Gene

COL1A1: Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We pre...

Descripción completa

Detalles Bibliográficos
Autores principales: Moul, Adrienne, Alladin, Amanda, Navarrete, Cristina, Abdenour, George, Rodriguez, Maria M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Informa Healthcare 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786543/
https://www.ncbi.nlm.nih.gov/pubmed/23301918
http://dx.doi.org/10.3109/15513815.2012.754528

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786543/
https://www.ncbi.nlm.nih.gov/pubmed/23301918
http://dx.doi.org/10.3109/15513815.2012.754528

Ejemplares similares