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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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Principais autores: Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013-03-01
coleção:Taiwanese Journal of Obstetrics & Gynecology
Assuntos:
COL1A1
osteogenesis imperfecta
prenatal diagnosis
recurrence
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S102845591300020X
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