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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.
Afiliación
  • Maioli M; Department of Medical Genetics and Rare Orthopaedic Diseases, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. margherita.maioli@ior.it.
  • Gnoli M; Department of Medical Genetics and Rare Orthopaedic Diseases, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Boarini M; CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Tremosini M; Department of Medical Genetics and Rare Orthopaedic Diseases, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Zambrano A; Department of Pediatrics, Center for Congenital Osteodystrophy - Sapienza University, Rome, Italy.
  • Pedrini E; Department of Medical Genetics and Rare Orthopaedic Diseases, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Mordenti M; CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Corsini S; Department of Medical Genetics and Rare Orthopaedic Diseases, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
  • D'Eufemia P; Department of Pediatrics, Center for Congenital Osteodystrophy - Sapienza University, Rome, Italy.
  • Versacci P; Department of Pediatrics, Sapienza University, Rome, Italy.
  • Celli M; Department of Pediatrics, Center for Congenital Osteodystrophy - Sapienza University, Rome, Italy.
  • Sangiorgi L; Department of Medical Genetics and Rare Orthopaedic Diseases, and CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Eur J Hum Genet ; 27(7): 1090-1100, 2019 07.
Article en En | MEDLINE | ID: mdl-30886339
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Fenotipo / Mutación Missense / Colágeno Tipo I / Genotipo Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Fenotipo / Mutación Missense / Colágeno Tipo I / Genotipo Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia