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Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II

โœ Scribed by Chih-Ping Chen; Yi-Ning Su; Fang-Yu Hung; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang


Book ID
119376421
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
469 KB
Volume
51
Category
Article
ISSN
1028-4559

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Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin