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A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

作者信息

Smolle Maria A, Heitzer Ellen, Geigl Jochen B, Al Kaissi Ali, Liegl-Atzwanger Bernadette, Seidel Markus G, Holzer Lukas A, Leithner Andreas

机构信息

Department for Orthopaedics and Trauma, Medical University of Graz, Graz, Austria.

Institute of Human Genetics, Medical University of Graz, Graz, Austria.

出版信息

Pediatr Blood Cancer. 2017 Oct;64(10). doi: 10.1002/pbc.26522. Epub 2017 Mar 30.

DOI:10.1002/pbc.26522

PMID:28371197

Abstract

摘要

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A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

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