Ontology highlight
ABSTRACT:
SUBMITTER: Cho TJ
PROVIDER: S-EPMC3415533 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Cho Tae-Joon TJ Lee Kyung-Eun KE Lee Sook-Kyung SK Song Su Jeong SJ Kim Kyung Jin KJ Jeon Daehyun D Lee Gene G Kim Ha-Neui HN Lee Hye Ran HR Eom Hye-Hyun HH Lee Zang Hee ZH Kim Ok-Hwa OH Park Woong-Yang WY Park Sung Sup SS Ikegawa Shiro S Yoo Won Joon WJ Choi In Ho IH Kim Jung-Wook JW
American journal of human genetics 20120802 2
Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. 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 involved in this disease has not been discovered yet. Using linkage analysis in a four-generation family and whole-exome sequencing, we identified a heterozygous mutation ...[more]