Article
Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.
Archives of disease in childhood - 1 May 2022
Thornley Patrick, Bishop Nicholas, Baker Duncan, Brock Joanna, Arundel Paul, Burren Christine, Smithson Sarah, DeVile Catherine, Crowe Belinda, Allgrove Jeremy, Saraff Vrinda, Shaw Nick, Balasubramanian Meena
Abstract excerpt
BACKGROUND/OBJECTIVES: In England, children (0-18 years) with severe, complex and atypical osteogenesis imperfecta (OI) are managed by four centres (Birmingham, Bristol, London, Sheffield) in a 'Highly Specialised Service' (HSS OI); affected children with a genetic origin for their disease that is not in COL1A1 or COL1A2 form the majority of the 'atypical' group, which has set criteria for entry into the service....
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