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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752585PMC
http://dx.doi.org/10.1002/ccr3.3370DOI Listing

Publication Analysis

Top Keywords

hypogonadotropic hypogonadism
8
hypogonadism compound
4
compound heterozygous
4
heterozygous mutations
4
mutations tacr3
4
tacr3 siblings
4
siblings authors
4
authors association
4
association heterozygous
4
heterozygous tacr3
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!