Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients - 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 (European journal of human genetics : EJHG, 2019)
Keywords: 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