Associated Papers
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
Pauli S et al.
Clinical Genetics, 2012
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.
Bilan F et al.
The Journal of Molecular Diagnostics : Jmd, 2012
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR et al.
American Journal of Human Genetics, 2006
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