Ontology highlight
ABSTRACT:
SUBMITTER: Sund KL
PROVIDER: S-EPMC2671989 | biostudies-literature | 2009 May
REPOSITORIES: biostudies-literature
Sund Kristen Lipscomb KL Roelker Stephanie S Ramachandran Vijaya V Durbin Lisa L Benson D Woodrow DW
Human molecular genetics 20090227 10
Mutations identified in a cohort of patients with atrioventricular septal defects as a part of Ellis van Creveld syndrome (EvC syndrome) led us to study the role of two non-homologous genes, EVC and LBN, in heart development and disease pathogenesis. To address the cause of locus heterogeneity resulting in an indistinguishable heart-hand phenotype, we carried out in situ hybridization and immunofluorescence and identified co-localization of Evc and Lbn mRNA and protein. In the heart, expression ...[more]