- The gene for cherubism maps to chromosome 4p16V Tiziani
Department of Cell Biology, Harvard Medical School and Harvard Forsyth Boston, MA, USA
Am J Hum Genet 65:158-66. 1999..Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM...
- Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANKE Reichenberger
Harvard Forsyth Department of Oral Biology, The Forsyth Institute, Harvard School of Dental Medicine, and Department of Cell Biology, Harvard Medical School, Boston, MA, USA
Am J Hum Genet 68:1321-6. 2001..These results suggest that the mutated protein has a dominant negative effect on the function of ANK, since reduced levels of pyrophosphate in bone matrix are known to increase mineralization...
- Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubismY Ueki
Harvard Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 28:125-6. 2001..Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism...