Article
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Bone - 1 Jan 2017
Balasubramanian M, Hurst J, Brown S, Bishop N J, Arundel P, DeVile C, Pollitt R C, Crooks L, Longman D, Caceres J F, Shackley F, Connolly S, Payne J H, Offiah A C, Hughes D, Parker M J, Hide W, Skerry T M
Abstract excerpt
BACKGROUND: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit. REPORT: Whole exome sequencing in patients with OI identified, in two patients...
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