Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29.
Am J Hum Genet. 2006.
PMID: 16400610
Free PMC article.