Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

The identification of an unusual chromosome 7 rearrangement and microdeletion in an affected subject and subsequently identified mutations in the FAM20C gene located within deleted region is detailed. The study provides insights into the causative role of FAM20C in lethal osteosclerotic disorder and its crucial role in normal bone development.