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Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in s...

Valsassina, R; Briosa, F; Soares, J; Amorim, M; Limbert, C

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.

Date: 2020   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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