Open AccessHypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
Clinical Case ReportsPeer ReviewedValsassina Rita +42020Journals
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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