Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome.

• Authors: Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
• Journal: Taiwanese journal of obstetrics & gynecology (Taiwan J Obstet Gynecol) Vol. 52 Issue 1 Pg. 152-3 (Mar 2013) ISSN: 1875-6263 [Electronic] China (Republic : 1949- )
• PMID: 23548243 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Collagen Type I
• Genetic Markers
• Osteogenesis Imperfecta, Type IV

Topics

• Adult
• Collagen Type I (genetics)
• Female
• Genetic Markers
• Genetic Testing
• Humans
• Infant, Newborn
• Mutation, Missense
• Osteogenesis Imperfecta (diagnosis, genetics)
• Pregnancy
• Prenatal Diagnosis