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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...
Autores principales: | Fadiga, Lúcia, Lavrador, Mariana, Vicente, Nuno, Barros, Luísa, Gonçalves, Catarina I., Al-Naama, Asma, Saraiva, Luis R., Lemos, Manuel C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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