1. Department of Pediatrics, Hospital Beatriz Ângelo, Loures, Portugal
2. Department of Pediatrics, Hospital de Santo André, Leiria, Portugal
3. Department of Genetics, Hospital Dona Estefânia, Lisboa, Portugal
4. Department of Pediatric Endocrinology, Hospital Dona Estefânia, Lisboa, Portugal
- Revista John Wiley & Sons Ltd , secção Clinical Case Reports, publicação em versão integral
Resumo: 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
Palavras Chave: endocrinology and metabolic disorders, genetics, pediatrics and adolescent medicine