Associated Papers
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.
Al Sayed Y et al.
European Journal of Human Genetics : Ejhg, 2023
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
Kim YJ et al.
Embo Reports, 2018
29263200 (PubMed )
Supplement: EMBR-19-269-s001.pdf
Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.
Marino M et al.
International Journal of Endocrinology, 2014
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 2011
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG et al.
American Journal of Human Genetics, 2010
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