Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference55 articles.
1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
2. Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen
3. Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis Imperfecta
4. Collagen defects in lethal perinatal osteogenesis imperfecta
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