Ontology highlight
ABSTRACT:
SUBMITTER: Lee MT
PROVIDER: S-EPMC2518658 | biostudies-literature | 2008 Jan
REPOSITORIES: biostudies-literature
Genomic medicine 20080101 1-2
Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of ...[more]