Associated Papers
Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.
Onesimo R et al.
Genes, 2021
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 case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Umino S et al.
Molecular Genetics & Genomic Medicine, 2019
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.
Katoh-Fukui Y et al.
Human Genome Variation, 2018
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC et al.
Journal of Medical Genetics, 2006
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