Ontology highlight
ABSTRACT:
SUBMITTER: Liu W
PROVIDER: S-EPMC4359973 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Liu Wei W Zhao Ning N Li Xue-Fu XF Wang Hong H Sui Yu Y Lu Yong-Ping YP Feng Wen-Hua WH Ma Chao C Han Wei-Tian WT Jiang Miao M
FEBS open bio 20150305
Congenital contractural arachnodactyly (CCA, OMIM: 121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM: 154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and pectus deformities but excluding the ocular and cardiovascular complications that characterize MFS. These two similar syndromes result from mutations in two genes belonging to the fibrillin family, FBN1 and FBN2, respectively. We successfully ide ...[more]