Article
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.
Human genetics - 1 Jun 2000
De Vos A, Sermon K, Van de Velde H, Joris H, Vandervorst M, Lissens W, De Paepe A, Liebaers I, Van Steirteghem A
Abstract excerpt
Osteogenesis imperfecta (OI) is an autosomal dominant genetic disorder characterized by the presence of brittle bones and decreased bone mass (osteopenia), as a result of mutations in the genes that encode the chains of type I collagen, the major protein of bone. The clinical features of the disease range from death in the perinatal period to normal life span with minimal increase in fractures. The present report...
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