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References

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

Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis. 2006 Sep 7;1:34. Review. PubMed citation
Gene Review: CHARGE Syndrome
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb;78(2):303-14. Epub 2005 Dec 29. PubMed citation
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 2006 Mar;43(3):211-217. Epub 2005 Sep 16. PubMed citation
Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur J Hum Genet. 2007 Apr;15(4):389-99. Epub 2007 Feb 14. Review. PubMed citation
Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 2005 Mar 15;133A(3):306-8. PubMed citation

Reviewed: May 2008

Published: May 20, 2013