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• W2010097911 abstract "Multiple osteochondroma (MO) is an autosomal dominant disease characterized by abnormal skeleton development: one or more exostoses localized mainly at the end of long bones. Three pathogenic gene loci have been identified and cloned: EXT1, 2, and 3. Only EXT1 and 2 mutations were reported to cause MO. Here, we report on a large Chinese family with MO and a disease-causing mutation in EXT. We extracted DNA from peripheral blood samples of 25 family members, 9 with MO. Polymerase chain reaction and direct DNA sequencing of the entire coding regions of EXT1 and 2 for the nine patients revealed a novel pathogenic mutation, insertion of a T in exon 2 (c.72–73 insT) of EXT2. Our results extend the mutational spectrum of MO and can help with genetic counseling and prenatal diagnosis for this family." @default.
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• W2010097911 date "2012-07-01" @default.
• W2010097911 modified "2023-09-23" @default.
• W2010097911 title "Pathogenic Gene Screening and Mutation Detection in a Chinese Family with Multiple Osteochondroma" @default.
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• W2010097911 doi "https://doi.org/10.1089/gtmb.2011.0276" @default.
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