Associated Papers
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV.
Lund AM et al.
Acta Paediatrica (oslo, Norway : 1992), 1997
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
Cole WG et al.
Journal of Medical Genetics, 1996
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.
Cole WG et al.
Journal of Medical Genetics, 1996
Select a paper to view details