Associated Papers
De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.
Wu J et al.
Bmc Pediatrics, 2025
Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.
Zhu F et al.
The Journal of International Medical Research, 2024
39053449 (PubMed )
Supplement: sj-xlsx-3-imr-10.1177_03000605241258171.xlsx › Table_S6
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
Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.
Ogata T et al.
Endocrine Journal, 2006
[Kallmann syndrome].
Sato N et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
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