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...
Main Authors: | Johanna Hietamäki, Matti Hero, Elina Holopainen, Johanna Känsäkoski, Kirsi Vaaralahti, Anna-Pauliina Iivonen, Päivi J Miettinen, Taneli Raivio |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2017-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC5705112?pdf=render |
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