Article
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.
Prague medical report - 1 Jan 2000
Medek Karel, Zeman Jiří, Honzík Tomáš, Hansíková Hana, Švecová Štěpánka, Beránková Kamila, Kučerová Vidrová Vendula, Kuklík Miloslav, Chomiak Jiří, Tesařová Markéta
Abstract excerpt
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2...
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