GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency

Biallelic, partial loss-of-function mutations in GNRHR cause a wide spectrum of reproductive phenotypes from constitutional delay of growth and puberty to complete congenital hypogonadotropic hypogonadism. We studied the frequency of GNRHR, FGFR1, TAC3, and TACR3 mutations in nine adolescent and you...

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Detalles Bibliográficos
Autores principales: Hietamäki, Johanna, Hero, Matti, Holopainen, Elina, Känsäkoski, Johanna, Vaaralahti, Kirsi, Iivonen, Anna-Pauliina, Miettinen, Päivi J., Raivio, Taneli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705112/
https://www.ncbi.nlm.nih.gov/pubmed/29182666
http://dx.doi.org/10.1371/journal.pone.0188750

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