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Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

著者 Bardai G , Ward LM , Trejo P , Moffatt P , Glorieux FH , Rauch F
Osteoporos Int.2017 Apr 04 ; ():.
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In 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes.
PMID: 28378289 [PubMed - as supplied by publisher]
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