Ontology highlight
ABSTRACT:
SUBMITTER: Grover M
PROVIDER: S-EPMC3800501 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Grover Monica M Campeau Philippe M PM Lietman Caressa Dee CD Lu James T JT Gibbs Richard A RA Schlesinger Alan E AE Lee Brendan H BH
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 20131101 11
Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by mutations in a plethora of different genes have been characterized. OI type V is a dominant form caused by the recurrent (c.-14C > T) mutation in the 5'UTR of the IFITM5 gene. The mutation adds five residues to the N-terminus of the IFITM5, but the pathophysiology of the disease remains to be elucidated. Typical clinical features present in the ma ...[more]