Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

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

http://hdl.handle.net/10400.17/3543

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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.

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Hypogonadotropic Hypogonadism Heterozygous mutations TACR3 Siblings HDE END PED HDE GEN

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http://hdl.handle.net/10400.17/3543

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Clin Case Rep . 2020 Sep 22;8(12):3126-3129

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John Wiley & Sons Ltd

DOI

10.1002/ccr3.3370

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Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

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