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
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE et al.
Journal of Medical Genetics, 2011
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
Jongmans MC et al.
American Journal of Medical Genetics. Part A, 2008
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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