ATRX

Publications

Gibbons RJ et al. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell. 1995;80(6):837–845. PMID: 7697714.

Wada T et al. Neuroradiologic features in X-linked alpha-thalassemia/mental retardation syndrome. AJNR Am J Neuroradiol. 2013;34(10):2034–2038. PMID: 23681356

Gibbons RJ et al. ATRX, X-linked a-Thalassemia Mental Retardation. In Erickson RP & Wynshaw-Boris AJ (ed.) Epstein’s Inborn Errors of Development. 3rd ed. New York, Oxford University Press, 2016. p957-964.

Law MJ et al. ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a -dependent manner. Cell. 2010;143(3):367–378. PMID: 21029860.

Shioda N et al. Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome. Nat Med. 2018;24(6):802–813. PMID: 29785027

Gibbons RJ. ATR-X: a-Thalassemia Mental retardation-X Linked. In: Cassidy and Allanson's Management of Genetic Syndromes 4th. 2021

Noordhuis-Zijderveld A et al. Clinical variability in individuals with ATR-X syndrome in the Netherlands. Eur J Med Genet. 2025 PMID: 40484370.