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References

These sources were used to develop the Genetics Home Reference condition summary on Down syndrome.

Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet. 2004 Oct;5(10):725-38. Review. PubMed citation
Cohen WI. Current dilemmas in Down syndrome clinical care: celiac disease, thyroid disorders, and atlanto-axial instability. Am J Med Genet C Semin Med Genet. 2006 Aug 15;142(3):141-8. Review. PubMed citation
Lott IT, Head E. Alzheimer disease and Down syndrome: factors in pathogenesis. Neurobiol Aging. 2005 Mar;26(3):383-9. Review. PubMed citation
Lubec G, Engidawork E. The brain in Down syndrome (TRISOMY 21). J Neurol. 2002 Oct;249(10):1347-56. Review. PubMed citation
Roizen NJ, Patterson D. Down's syndrome. Lancet. 2003 Apr 12;361(9365):1281-9. Review. PubMed citation
Shapiro BL. Down syndrome and associated congenital malformations. J Neural Transm Suppl. 2003;(67):207-14. Review. PubMed citation
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7. Review. PubMed citation
Zigman WB, Lott IT. Alzheimer's disease in Down syndrome: neurobiology and risk. Ment Retard Dev Disabil Res Rev. 2007;13(3):237-46. Review. PubMed citation

Reviewed: June 2008

Published: November 20, 2009