Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

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...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
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: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777444/
https://ncbi.nlm.nih.gov/pubmed/30886339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0373-x
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