Associated Papers
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno JS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
29419413 (PubMed )
Supplement: eje-178-377-t002.pdf
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
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