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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752585 | PMC |
http://dx.doi.org/10.1002/ccr3.3370 | DOI Listing |
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