Associated Papers
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_1.XLSX › P_or_LP_variants
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Bergman JE et al.
Human Mutation, 2012
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
Wessels K et al.
European Journal of Medical Genetics, 0
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