A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations

Osteogenesis imperfecta (OI) is a genetic disorder causing skeletal fragility, multiple fractures, and other extraskeletal manifestations. Most cases are caused by mutations in COL1A1 or COL1A2. Recent investigations have discovered several other autosomal recessive genes responsible for OI. Among t...

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Detalles Bibliográficos
Autores principales: Santana, Adolfredo, Franzone, Jeanne M., McGreal, Cristina M., Kruse, Richard W., Bober, Michael B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146588/
https://www.ncbi.nlm.nih.gov/pubmed/30246063
http://dx.doi.org/10.1016/j.bonr.2018.09.002

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