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
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
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics
Aksel Kılıçarslan Ö et al.
Turkish Journal of Medical Sciences, 2018
Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.
Bozkaya OG et al.
Balkan Journal of Medical Genetics : Bjmg, 2015
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