Cargando…
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations
OBJECTIVE: The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal dela...
Autores principales: | Akkuş, Gamze, Kotan, Leman Damla, Durmaz, Erdem, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Gürbüz, Fatih, Yüksel, Bilgin, Tetiker, Tamer, Topaloğlu, A. Kemal |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463295/ https://www.ncbi.nlm.nih.gov/pubmed/28008864 http://dx.doi.org/10.4274/jcrpe.3908 |
Ejemplares similares
-
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1
por: Kotan, Leman Damla, et al.
Publicado: (2016) -
Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
por: Gürbüz, Fatih, et al.
Publicado: (2012) -
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism
por: Topaloğlu, A. Kemal
Publicado: (2017) -
Comparative Analyses of Turkish Variome and Widely Used Genomic
Variation Databases for the Evaluation of Rare Sequence Variants in Turkish
Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease
Model
por: Kotan, Leman Damla
Publicado: (2022) -
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
por: Bulut, Fatma Derya, et al.
Publicado: (2020)