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
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Legendre M et al.
Journal of Medical Genetics, 2012
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Sanlaville D et al.
Journal of Medical Genetics, 2006
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