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Osteogenesis Imperfecta.. - alveoli

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Osteogenesis Imperfecta.. - alveoli
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#1
09-01-2008, 10:53 PM
One last question and ......then I am off to dream land....


1)How do you confirm the diagnosis of Osteogenesis Imperfecta?
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#2
09-01-2008, 10:54 PM
Osteogenesis imperfecta is caused by mutations in type 1 collagen and its typical features are blue sclera and recurrent fractures.
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#3
09-01-2008, 11:05 PM
PCR !
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#4
09-02-2008, 04:50 AM
Culture of fibroblasts (from punch biopsy of skin) is the definitive diagnosis of OI.
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