Genetic Conditions > alpha thalassemia X-linked intellectual disability syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on alpha thalassemia X-linked intellectual disability syndrome.

Gene Review: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
Gibbons R. Alpha thalassaemia-mental retardation, X linked. Orphanet J Rare Dis. 2006 May 4;1:15. Review. PubMed citation
Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L, Kingston HM, et al. Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet. 1995 Jan 30;55(3):288-99. Review. PubMed citation
Gibbons RJ, Higgs DR. Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet. 2000 Fall;97(3):204-12. Review. PubMed citation
Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. Am J Hum Genet. 1992 Nov;51(5):1136-49. PubMed citation
Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J. Mutations in the chromatin-associated protein ATRX. Hum Mutat. 2008 Jun;29(6):796-802. doi: 10.1002/humu.20734. PubMed citation
Higgs DR, Weatherall DJ. The alpha thalassaemias. Cell Mol Life Sci. 2009 Apr;66(7):1154-62. doi: 10.1007/s00018-008-8529-9. Review. PubMed citation
Martucciello G, Lombardi L, Savasta S, Gibbons RJ. Gastrointestinal phenotype of ATR-X syndrome. Am J Med Genet A. 2006 Jun 1;140(11):1172-6. PubMed citation
Villard L, Fontes M. Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). Eur J Hum Genet. 2002 Apr;10(4):223-5. PubMed citation


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