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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2013-03-01
Edice:	Taiwanese Journal of Obstetrics & Gynecology
Témata:	COL1A1 osteogenesis imperfecta prenatal diagnosis recurrence
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S102845591300020X
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!