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
Atopic disorders in CHARGE syndrome: A retrospective study and literature review.
Kong F et al.
European Journal of Medical Genetics, 2018
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
Hale CL et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
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