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    Hum Mol Genet. 1994 Feb;3(2):359-61.

    Genetic linkage of familial expansile osteolysis to chromosome 18q.

    Hughes AE, Shearman AM, Weber JL, Barr RJ, Wallace RG, Osterberg PH, Nevin NC, Mollan RA.

    Department of Medical Genetics, Queen's University of Belfast, UK.

    Familial expansile osteolysis is a rare bone dysplasia which is transmitted as an autosomal dominant trait in a large kindred in Northern Ireland. The gene which causes the disease shows tight linkage with several polymorphic markers on chromosome 18q with a maximum lod score of 11.53 at a recombination fraction of 0.00 with D18S64. The gene is flanked by D18S35 and D18S61 and is located at chromosome 18q21.1-q22. Mapping a new locus for a gene involved in regulation of bone metabolism may also have implications in the study of Paget's disease of bone which is a common related bone dysplasia.

    PMID: 7911698 [PubMed - indexed for MEDLINE]

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