A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect
β Scribed by Giacomo Venturi; Elena Monti; Luca Dalle Carbonare; Massimiliano Corradi; Alberto Gandini; Maria Teresa Valenti; Attilio Boner; Franco Antoniazzi
- Book ID
- 116325048
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 906 KB
- Volume
- 50
- Category
- Article
- ISSN
- 8756-3282
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## We have characterized a familial form of osteogenesis imperfecta (OI) . Following the identification by ultrasound of short limbs and multiple fractures in a fetus at 25 weeks of gestation, the family was referred with a provisional diagnosis of severe OI. We detected subtle clinical and radiolo
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