1.
Genet Test
; 12(3): 331-2, 2008 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18666861
RESUMO
Hereditary multiple exostoses (HME) is an autosomal-dominant disorder characterized by the presence of bony outgrowths on the long bones. In this report, we describe a Chinese family with HME. Linkage analysis and mutation detection were performed. Linkage with the EXT2 was established in this family. A novel mutation, EXT2 c239-244delG, was identified. Mutation analysis in a family with HME allows for genetic counseling and prenatal diagnosis.