New Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature Review

• Autori principali: G. T. Yakhyayeva (Autore), L. S. Namazova-Baranova (Autore), T. V. Margieva (Autore)
• Natura: Libro
• Pubblicazione: Union of pediatricians of Russia, 2015-12-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Osteogenesis imperfecta is characterized by increased congenital brittleness of bones with a broad spectrum of clinical manifestations - from perinatal/lethal form and severe bone deformities to the mildest forms. In most cases, the disease is caused by autosomaldominant mutation in the collagen 1 g...