Genotypes and Clinical Phenotypes of Osteogenesis Imperfecta
Konstantina Kontoula,
Erato Atsali,
Symeon Tournis
et al.
Abstract:Osteogenesis Imperfecta (OI) is a rare genetic disorder clinically characterized by skeletal and bone deformity, low bone mass, impaired bone strength, connective tissue symptoms and several extraskeletal symptoms. Mutations in the two genes that encode type I collagen are the most common cause of OI. During the last decade, numerous novel causative genes involved in collagen biosynthesis, modification, and secretion, osteoblast development and function, and bone homeostasis have been linked to recessive and d… Show more
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