Associated Papers
A novel variant of ATRX gene is potentially associated with alpha-thalassemia X-linked intellectual disability syndrome: Case report and literature review.
Sarah B et al.
Sage Open Medical Case Reports, 2024
Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.
Cong Y et al.
Frontiers in Pediatrics, 2022
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
Compromised genomic integrity impedes muscle growth after Atrx inactivation.
Huh MS et al.
The Journal of Clinical Investigation, 2012
Mutations in the chromatin-associated protein ATRX.
Gibbons RJ et al.
Human Mutation, 2008
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.
Argentaro A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Molecular-clinical spectrum of the ATR-X syndrome.
Gibbons RJ et al.
American Journal of Medical Genetics, 2000
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L et al.
Journal of Medical Genetics, 1999
[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
Szczałuba K et al.
Medycyna Wieku Rozwojowego, 0
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