Ontology highlight
ABSTRACT:
SUBMITTER: Bernier FP
PROVIDER: S-EPMC3376638 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
American journal of human genetics 20120426 5
Nager syndrome, first described more than 60 years ago, is the archetype of a class of disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb malformations. Despite intensive efforts, no gene for Nager syndrome has yet been identified. In an international collaboration, FORGE Canada and the National Institutes of Health Centers for Mendelian Genomics used exome sequencing as a discovery tool and found that mutations in SF3B4, a component of the U2 pre-mRNA s ...[more]