Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

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...

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Bibliographic Details
Main Authors: Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Format: Article
Language:English
Published: Karolinum Press 2017-09-01
Series:Prague Medical Report
Subjects:
Multiple exostoses
EXT1
EXT2
Online Access:https://pmr.lf1.cuni.cz/118/2/0087/

Internet

https://pmr.lf1.cuni.cz/118/2/0087/

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