Associated Papers
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
38148819 (PubMed )
Supplement: mmc1.docx
Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.
Wei H et al.
American Journal of Medical Genetics. Part A, 2020
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
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim EC et al.
Human Genomics, 2015
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
Select a paper to view details