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

• Chih-Ping Chen,
• Shuan-Pei Lin,
• Yi-Ning Su,
• Schu-Rern Chern,
• Jun-Wei Su,
• Wayseen Wang

Affiliations

Chih-Ping Chen

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan

Shuan-Pei Lin

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan

Yi-Ning Su

Department of Obstetrics and Gynecology, School of Medicine, Taipei Medical University, Taipei, Taiwan

Schu-Rern Chern

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan

Jun-Wei Su

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan

Wayseen Wang

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan