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Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism

Some mutations in FGFR1 affect the sense of smell while others do not, resulting in Kallmann syndrome (KS) and normosmic isolated hypogonadotropic hypogonadism (nIHH), respectively. The underlying mechanism is still unclear. FGFR1 variants are found in less than 10% of patients with KS and nIHH, and...

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Detalles Bibliográficos
Autores principales: Ying, Hui, Sun, Yan, Wu, Huixiao, Jia, Wenyu, Guan, Qingbo, He, Zhao, Gao, Ling, Zhao, Jiajun, Ji, Yiming, Li, Guimei, Xu, Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7704206/
https://www.ncbi.nlm.nih.gov/pubmed/33299522
http://dx.doi.org/10.1155/2020/2358719