Browsing by Author "Briosa, F"
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- Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblingsPublication . Valsassina, R; Briosa, F; Soares, J; Amorim, M; Limbert, CThe 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.