@article{e3e67b2453504a4f894ceacea99e1cce,
title = "Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings",
abstract = "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.",
keywords = "Endocrinology and metabolic disorders, Genetics, Pediatrics and adolescent medicine",
author = "Rita Valsassina and Filipa Briosa and Joana Soares and Marta Amorim and Catarina Limbert",
note = "Publisher Copyright: {\textcopyright} 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd",
year = "2020",
month = dec,
doi = "10.1002/ccr3.3370",
language = "English",
volume = "8",
pages = "3126--3129",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "12",
}