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Osteogenesis imperfecta and other disorders of low bone density 

Osteogenesis imperfecta and other disorders of low bone density
Chapter:
Osteogenesis imperfecta and other disorders of low bone density
Author(s):

Roger Smith

and Paul Wordsworth

DOI:
10.1093/med/9780199607990.003.0009
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date: 19 September 2020

Osteogenesis imperfecta may be regarded as the first of the ‘new’ metabolic bone diseases, largely due to mutations in the genes for type 1 collagen. This chapter deals with the relation between genotype and phenotype, with diagnosis, management, and genetics. Other disorders include the osteoporosis pseudoglioma syndrome and Hajdu–Cheney syndrome.

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