A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13071128
Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia caused by runt-related transcription factor 2 (RUNX2) mutations. In addition to the regular missense, small or large fragment deletions are the common mutation types of… read more here.
Keywords: cleidocranial dysplasia; deletion runx2; dysplasia; kbp deletion ... See more keywords