Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

• Published in: European journal of human genetics : EJHG Vol. 27; no. 7; pp. 1090 - 1100
• Main Authors: Maioli, Margherita, Gnoli, Maria, Boarini, Manila, Tremosini, Morena, Zambrano, Anna, Pedrini, Elena, Mordenti, Marina, Corsini, Serena, D’Eufemia, Patrizia, Versacci, Paolo, Celli, Mauro, Sangiorgi, Luca
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.07.2019; Springer International Publishing
• Subjects: Adult; Amino Acid Substitution; Child, Preschool; Collagen; Collagen (type I); Collagen Type I - genetics; Collagen Type I - metabolism; Connective tissue diseases; Dentinogenesis; Dentinogenesis imperfecta; Female; Genetic disorders; Genotype; Genotypes; Humans; Infant; Italy; Male; Mutation; Mutation, Missense; Nucleotides; Osteogenesis; Osteogenesis imperfecta; Osteogenesis Imperfecta - genetics; Osteogenesis Imperfecta - metabolism; Osteogenesis Imperfecta - pathology; Phenotype; Phenotypes; Population studies; Serine; Young Adult; Italy

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient follow-up management, a homogeneous Italian cohort of 364 subjects affected by OI typ...