Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology

Author:

Shapiro Jay R.

Publisher

Elsevier

Reference49 articles.

1. A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta;Cabral;Genet Med,2012

2. The brittle bone syndrome osteogenesis imperfecta;Smith,1983

3. Osteogenesis imperfecta; a study of clinical features and heredity based on 55 Danish families comprising 180 affected members;Seedorff,1949

4. Genetic heterogeneity in osteogenesis imperfecta;Sillence;J Med Genet,1979

5. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease;Edwards;Hum Mutat,1992

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