Identification and characterization of the gene underlying hyperostosis cranialis interna.

In this project, we aim to identify and characterize the gene underlying an autosomal dominant disease named Hyperostosis Cranialis Interna as the patients present with an increased thickness of the skull while the remaining of the skeleton seems to be unaffected.With this project we hope to gain insight into the pathogenesis of HCI and based on that also the aspects of bone formation, especially those that might be specific to the skull bones.

Keywords:MEDICAL GENETICS, RHEUMATOLOGY, MUSCULO-SKELETAL SYSTEMS

Disciplines:Genetics, Systems biology, Molecular and cell biology, Orthopaedics