Reference
Lalani, Seema R., et al. “Spectrum of CHD7 Mutations in 110 Individuals With CHARGE Syndrome and Genotype-Phenotype Correlation”. The American Journal of Human Genetics, vol. 78, no. 2, Jan. 2006, pp. 303–314, https://doi.org/10.1086/500273.
PubMed Reference Number (PMID)
16400610