Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

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 clin...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Bone
Main Authors: Balasubramanian, M, Hurst, J, Brown, S, Bishop, NJ, Arundel, P, DeVile, C, Pollitt, RC, Crooks, L, Longman, D, Caceres, JF, Shackley, F, Connolly, S, Payne, JH, Offiah, AC, Hughes, D, Parker, MJ, Hide, W, Skerry, T
Formato: Artigo
Idioma:Inglês
Publicado: 2016
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6067660/
https://ncbi.nlm.nih.gov/pubmed/27789416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2016.10.023
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares