Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Z
PROVIDER: S-EPMC3748067 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Zhang Zeng Z Li Mei M He Jin-Wei JW Fu Wen-Zhen WZ Zhang Chang-Qing CQ Zhang Zhen-Lin ZL
PloS one 20130820 8
Osteogenesis imperfecta (OI) type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. The causative mutation, c.-14C>T in the 5'-untranslated region of IFITM5, was recently discovered to be involved in this disease. However, in spite of the little genotypic variability, considerable phenotypic variability has been recognized in two cohorts of p ...[more]