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Am J Hum Genet. 1999 July; 65(1): 158–166. | PMCID: PMC1378086 |
The gene for cherubism maps to chromosome 4p16. V Tiziani, E Reichenberger, C L Buzzo, S Niazi, N Fukai, M Stiller, H Peters, F M Salzano, C M Raposo do Amaral, and B R Olsen Department of Cell Biology, Harvard Medical School and Harvard-Forsyth Boston, MA, USA. vtiziani@warren.med.harvard.edu Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. 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. The Full Text of this article is available as a PDF (852K). These references are in PubMed. This may not be the complete list of references from this article. - Anderson DM, Maraskovsky E, Billingsley WL, Dougall WC, Tometsko ME, Roux ER, Teepe MC, DuBose RF, Cosman D, Galibert L. A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. Nature. 1997 Nov 13;390(6656):175–179. [PubMed]
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