Article citationsMore>>
Lalani, S.R., Safiullah, A.M., Fernbach, S.D., Harutyunyan, K.G., Thaller, C., Peterson, L.E., McPherson, J.D., Gibbs, R.A., White, L.D., Hefner, M., Davenport, S.L., Graham, J.M., Bacino, C.A., Glass, N.L., Towbin, J.A., Craigen, W.J., Neish, S.R., Lin, A.E. and Belmont, J.W. (2006) Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation. The American Journal of Human Genetics, 78, 303-314.
http://dx.doi.org/10.1086/500273
has been cited by the following article:
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TITLE:
Charge Syndrome—A Case Report
AUTHORS:
A. Ravindran, A. Amirthagani, Prince Peter Dhas, S. Nagarajan, Senthil Kumar, Satheesh Kumar, Venkatesh
KEYWORDS:
Charge Syndrome, Choanal Atresia, Coloboma
JOURNAL NAME:
International Journal of Otolaryngology and Head & Neck Surgery,
Vol.4 No.2,
March
24,
2015
ABSTRACT: CHARGE syndrome is a rare, recently well recognized entity with non-random pattern of congenital anomalies. The syndrome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All anomalies are not seen in every case and a varied spectrum of associations is seen in most of the cases. The exact incidence is not known. However, the reported prevalence is approximately 1:10,000 births. We report one such case.
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