Article
Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.
PLoS genetics - 1 Feb 2009
Choi Murim, Klingensmith John
Abstract excerpt
Point mutations in TBX1 can recapitulate many of the structural defects of 22q11 deletion syndromes (22q11DS), usually associated with a chromosomal deletion at 22q1.2. 22q11DS often includes specific cardiac and pharyngeal organ anomalies, but the presence of characteristic craniofacial defects is highly variable. Even among family members with a single TBX1 point mutation but no cytological deletion, cleft...
Topics
- Animals
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Craniofacial Abnormalities
- Female
- Glycoproteins
- Humans
- Intercellular Signaling Peptides and Proteins
- Male
- Mice
- Mice, Knockout