Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference46 articles.
1. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
2. Congenital osteogenesis imperfecta in three sibs
3. BD:OAS;Buyse,1978
4. Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome
5. Intrauterine Osteogenesis Imperfecta in Four Siblings
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