对患有遗传性多发性骨软骨瘤的塞浦路斯家庭进行EXT1和EXT2基因筛查。 - Suppr

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.

作者信息

Tanteles George A, Nicolaou Michael, Neocleous Vassos, Shammas Christos, Loizidou Maria A, Alexandrou Angelos, Ellina Elena, Patsia Nasia, Sismani Carolina, Phylactou Leonidas A, Christophidou-Anastasiadou Violetta

机构信息

Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus.

出版信息

J Genet. 2015 Dec;94(4):749-54. doi: 10.1007/s12041-015-0564-3.

DOI:10.1007/s12041-015-0564-3

PMID:26690531

Abstract

摘要

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Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.

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Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.

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