A novel mutation inATRXassociated with intellectual disability, syndromic features, and osteosarcoma-Reference-Cited by-同舟云学术

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A novel mutation inATRXassociated with intellectual disability, syndromic features, and osteosarcoma

Published:2017-03-30 Issue:10 Volume:64 Page:e26522
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Smolle Maria A.¹,Heitzer Ellen²,Geigl Jochen B.²,Al Kaissi Ali³,Liegl-Atzwanger Bernadette⁴,Seidel Markus G.⁵,Holzer Lukas A.¹,Leithner Andreas¹

Affiliation:

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

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Osteosarcoma;Sweetnam;Br J Hosp Med,1982

2. The mutation spectrum in RECQL4 diseases;Siitonen;Eur J Hum Genet,2009

3. Multiple primary malignancies in osteosarcoma patients. Incidence and predictive value of osteosarcoma subtype for cancer syndromes related with osteosarcoma;Hauben;Eur J Hum Genet,2003

4. X-linked mental retardation;Neri;Adv Genet,1999

5. Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032);Villard;Eur J Hum Genet,2002

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1. ATRX/DAXX: Guarding the Genome against the Hazards of ALT;Genes;2023-03-24

2. Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights;Genes;2022-10-04

3. Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics;Cancer Science;2022-04-26

4. Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review;Frontiers in Pediatrics;2022-04-04

5. ATR-X syndrome: genetics, clinical spectrum, and management;Human Genetics;2021-09-15

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