Publication: Genotype-phenotype study in type V osteogenesis imperfecta
Genotype-phenotype study in type V osteogenesis imperfecta
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Balasubramanian, M., Parker, M. J., Dalton, A., Giunta, C., Lindert, U., Peres, L. C., Wagner, B. E., Arundel, P., Offiah, A., & Bishop, N. J. (2013). Genotype-phenotype study in type V osteogenesis imperfecta. Clinical Dysmorphology, 22(3), 93–101. https://doi.org/10.1097/MCD.0b013e32836032f0
Abstract
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Type V osteogenesis imperfecta (OI) presents with moderate-to-severe skeletal deformity and is characterized by hyperplastic callus formation at fracture sites and calcification of the interosseous membranes of the forearm and lower leg. The facial dysmorphism is not well characterized and has not been described in previous reports. Inheritance is autosomal dominant, although the genetic aetiology remained unknown until very recently. The aims of this study were to establish the genetic aetiology in patients with type V OI and further
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- Balasubramanian, Meena
- Parker, Michael J
- Dalton, Ann
- Giunta, Cecilia
- Lindert, Uschi
- Peres, Luiz C
- Wagner, Bart E
- Arundel, Paul
- Offiah, Amaka
- Bishop, Nicholas J
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Balasubramanian, M., Parker, M. J., Dalton, A., Giunta, C., Lindert, U., Peres, L. C., Wagner, B. E., Arundel, P., Offiah, A., & Bishop, N. J. (2013). Genotype-phenotype study in type V osteogenesis imperfecta. Clinical Dysmorphology, 22(3), 93–101. https://doi.org/10.1097/MCD.0b013e32836032f0