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- [2] Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings CLINICAL CASE REPORTS, 2020, 8 (12): : 3125 - 3128
- [3] GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism ENDOCRINE CONNECTIONS, 2017, 6 (06): : 360 - 366
- [5] Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations PLOS ONE, 2012, 7 (06):
- [6] Congenital hypogonadotropic hypogonadism caused by a novel mutation of GnRHR gene: A case report HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 568 - 568
- [9] Normosmic Congenital Hypogonadotropic Hypogonadism caused a missense mutation in the GnRHR gene in a Female Adolescent HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 452 - 453
- [10] Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings PLOS GENETICS, 2018, 14 (01):