Associated Papers
Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.
Patil VA et al.
Pituitary, 2022
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary_Table_1.xlsx › Supp_Table_1C_SOX10-gnomAD
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.
Min L et al.
Neuroendocrinology, 2016
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.
Karges B et al.
Endocrine Development, 2005
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