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
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 2023
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
Abnormal basiocciput development in CHARGE syndrome.
Fujita K et al.
Ajnr. American Journal of Neuroradiology, 2009
Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
Asakura Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
Aramaki M et al.
The Journal of Pediatrics, 2006
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