Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report

Abstract Background Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems...

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Bibliographic Details
Main Authors: Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi, Mohammad Ali Faghihi
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
Osteogenesis imperfect (OI)
FKBP10
Novel splice mutation
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-018-0579-8

Internet

http://link.springer.com/article/10.1186/s12881-018-0579-8

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