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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

โœ Scribed by Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang


Book ID
119376420
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
594 KB
Volume
51
Category
Article
ISSN
1028-4559

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## We have characterized a familial form of osteogenesis imperfecta (OI) . Following the identification by ultrasound of short limbs and multiple fractures in a fetus at 25 weeks of gestation, the family was referred with a provisional diagnosis of severe OI. We detected subtle clinical and radiolo