| First Author | Preston RA | Year | 1994 |
| Journal | Nat Genet | Volume | 7 |
| Issue | 2 | Pages | 149-53 |
| PubMed ID | 7920632 | Mgi Jnum | J:18581 |
| Mgi Id | MGI:66844 | Doi | 10.1038/ng0694-149 |
| Citation | Preston RA, et al. (1994) A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Nat Genet 7(2):149-53 |
| abstractText | Crouzon craniofacial dysostosis (CFD) is an autosomal dominant craniofacial disorder characterized by premature craniosynostosis, shallow orbits and hypoplastic maxilla. To map the gene responsible, we have used a mapping strategy of testing for linkage to known developmental genes. Analysis of a large kindred established linkage between CFD and three loci (D10S190, D10S209 and D10S216) that span a 13 cM region on chromosome 10q. A maximum pairwise lod score of 4.42 (theta = 0) at D10S190 was obtained and the addition of a second kindred produced a combined pairwise lod score of 5.32 (theta = 0) at the same locus. The developmental gene, PAX2, located within this region, is an attractive candidate gene. |
