Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

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.

Detalles Bibliográficos
Autores principales: Valsassina, Rita, Briosa, Filipa, Soares, Joana, Amorim, Marta, Limbert, Catarina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752585/
https://www.ncbi.nlm.nih.gov/pubmed/33363893
http://dx.doi.org/10.1002/ccr3.3370
Descripción
Sumario: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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