RUNX2
RUNX2 is an osteoblast-specific transcription factor.
heterozygous mutations in
-
cleidocranial dysplasia (MIM.119600) (#12196916#)
- polyalanine repeat expansion
- forme fruste cleidocranial dysplasia with brachydactyly (MIM.119600)
See also
polyalanine repeat expansions
References
Anglin I, Passaniti A. Runx protein signaling in human cancers. Cancer Treat Res. 2004;119:189-215. PMID: #15164879#
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