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Published on: August 15, 2019
A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses
Shi Guo Liu1, De Guo Lu, Zhong Qiang Liu
1Graduate School of Peking Union Medical College, Beijing, China., National Research Institute for Family Planning, Beijing, China.
Abstract:
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.
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