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

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

Authors

Maria A Smolle¹, Ellen Heitzer², Jochen B Geigl², Ali Al Kaissi³, Bernadette Liegl-Atzwanger⁴, Markus G Seidel⁵, Lukas A Holzer¹, Andreas Leithner¹

Affiliations

¹ Department for Orthopaedics and Trauma, Medical University of Graz, Graz, Austria.
² Institute of Human Genetics, Medical University of Graz, Graz, Austria.
³ Orthopaedic Hospital Speising Vienna, Austria.
⁴ Institute of Pathology, Medical University of Graz, Graz, Austria.
⁵ Division of Paediatric Haemato-Oncology, Medical University of Graz, Graz, Austria.

PMID: 28371197
DOI: 10.1002/pbc.26522

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Genetic Association Studies
Humans
Intellectual Disability / genetics*
Male
Microcephaly / genetics
Osteosarcoma / genetics*
X-linked Nuclear Protein / genetics*
Young Adult

Substances

ATRX protein, human
X-linked Nuclear Protein