Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Valsassina, RBriosa, FSoares, JAmorim, MLimbert, C2021-01-222021-01-222020-12Clin Case Rep . 2020 Sep 22;8(12):3126-3129http://hdl.handle.net/10400.17/3543The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.engHypogonadotropicHypogonadismHeterozygous mutations TACR3SiblingsHDE END PEDHDE GENHypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblingsjournal article10.1002/ccr3.3370