Associated Papers
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
41361008 (PubMed )
Supplement: 41588_2025_2431_MOESM6_ESM.xlsx › Figure_E7a
FGFR1-related congenital hypogonadotropic hypogonadism: a case report and literature review.
Sun M et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2025
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C et al.
Embo Molecular Medicine, 2017
28754744 (PubMed )
Supplement: EMMM-9-1379-s001.pdf
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H et al.
American Journal of Human Genetics, 2013
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N et al.
Molecular and Cellular Endocrinology, 2006
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