Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II

• Chih-Ping Chen,
• Yi-Ning Su,
• Tung-Yao Chang,
• Schu-Rern Chern,
• Jun-Wei Su,
• Wayseen Wang

Affiliations

Chih-Ping Chen

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan

Yi-Ning Su

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan

Tung-Yao Chang

Taiji Fetal Medicine Center, 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