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

• मुख्य लेखकों: Fatemeh Maghami (लेखक), Seyed Mohammad Bagher Tabei (लेखक), Hossein Moravej (लेखक), Hassan Dastsooz (लेखक), Farzaneh Modarresi (लेखक), Mohammad Silawi (लेखक), Mohammad Ali Faghihi (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...