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

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

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...

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Bibliographic Details
Main Authors: Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2012-06-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
COL1A1
Osteogenesis imperfecta type I
Prenatal diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455912000769

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http://www.sciencedirect.com/science/article/pii/S1028455912000769

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