Osteogenesis imperfecta type I: Second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father

• Main Authors: Chih-Ping Chen (Author), Yi-Ning Su (Author), Tung-Yao Chang (Author), Schu-Rern Chern (Author), Chen-Yu Chen (Author), Jun-Wei Su (Author), Wayseen Wang (Author)
• פורמט: ספר
• יצא לאור: Elsevier, 2012-06-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Objective: To present second-trimester ultrasound and molecular diagnosis for osteogenesis imperfecta (OI) type I in a female fetus and incidental identification of a dominant COL1A1 deletion mutation in her paucisymptomatic father. Case Report: A 30-year-old, primigravid woman was referred for gene...