Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

Objective: To present the prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta (OI) associated with unaffected parents and paternal gonadal mosaicism. Materials and Methods: A 37-year-old woman was referred for genetic counseling at 18 weeks of gestation because of advanced mat...

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Main Authors: Chih-Ping Chen (Author), Shuan-Pei Lin (Author), Yi-Ning Su (Author), Schu-Rern Chern (Author), Jun-Wei Su (Author), Wayseen Wang (Author)
Format: Book
Published: Elsevier, 2013-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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