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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

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