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Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome

✍ Scribed by Chen, Chih-Ping; Lin, Shuan-Pei; Su, Yi-Ning; Chern, Schu-Rern; Su, Jun-Wei; Wang, Wayseen


Book ID
123597347
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
247 KB
Volume
52
Category
Article
ISSN
1028-4559

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Communicated by Alec J. Jefieys An eight-year-old boy was referred for dental assessment of dentinogenesis imperfecta, a full clinical examination also revealed joint hypermobility and some features of mild osteogenesis imperfecta although he had suffered few fractures. Analysis of the collagens pro