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

• Hauptverfasser: Fatemeh Maghami (Verfasst von), Seyed Mohammad Bagher Tabei (Verfasst von), Hossein Moravej (Verfasst von), Hassan Dastsooz (Verfasst von), Farzaneh Modarresi (Verfasst von), Mohammad Silawi (Verfasst von), Mohammad Ali Faghihi (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2018-05-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

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...