title: A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
authors.affiliation: Department for Orthopaedics and Trauma, Medical University of Graz, Graz, Austria.
authors.forename: Maria A
authors.initials: MA
authors.lastname: Smolle
authors.affiliation: Institute of Human Genetics, Medical University of Graz, Graz, Austria.
authors.forename: Ellen
authors.initials: E
authors.lastname: Heitzer
authors.affiliation: Institute of Human Genetics, Medical University of Graz, Graz, Austria.
authors.forename: Jochen B
authors.initials: JB
authors.lastname: Geigl
authors.affiliation: Orthopaedic Hospital Speising Vienna, Austria.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.affiliation: Institute of Pathology, Medical University of Graz, Graz, Austria.
authors.forename: Bernadette
authors.initials: B
authors.lastname: Liegl-Atzwanger
authors.affiliation: Division of Paediatric Haemato-Oncology, Medical University of Graz, Graz, Austria.
authors.forename: Markus G
authors.initials: MG
authors.lastname: Seidel
authors.affiliation: Department for Orthopaedics and Trauma, Medical University of Graz, Graz, Austria.
authors.forename: Lukas A
authors.initials: LA
authors.lastname: Holzer
authors.affiliation: Department for Orthopaedics and Trauma, Medical University of Graz, Graz, Austria.
authors.forename: Andreas
authors.initials: A
authors.lastname: Leithner
mesh_terms: D000328:Adult; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D012516:Osteosarcoma / Q000235:genetics*; D000075924:X-linked Nuclear Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein