2 research outputs found
Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
The 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.info:eu-repo/semantics/publishedVersio