Associated Papers
Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.
Panigrahi I et al.
Journal of Pediatric Genetics, 2022
With expanded carrier screening, founder populations run the risk of being overlooked.
Mathijssen IB et al.
Journal of Community Genetics, 2017
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
Valli M et al.
Clinical Genetics, 2012
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS et al.
European Journal of Human Genetics : Ejhg, 2009
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