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A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism

Congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive endocrine disorder characterized by complete or partial failure of pubertal development and infertility due to deficiency of the gonadotropin-releasing hormone (GnRH). CHH has a significant clinical heterogeneity and can be caused...

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Detalles Bibliográficos
Autores principales: Fadiga, Lúcia, Lavrador, Mariana, Vicente, Nuno, Barros, Luísa, Gonçalves, Catarina I., Al-Naama, Asma, Saraiva, Luis R., Lemos, Manuel C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9026826/
https://www.ncbi.nlm.nih.gov/pubmed/35457241
http://dx.doi.org/10.3390/ijms23084423