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Article

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

Oxidative medicine and cellular longevity - 1 Jan 2020

Ying Hui, Sun Yan, Wu Huixiao, Jia Wenyu, Guan Qingbo, He Zhao, Gao Ling, Zhao Jiajun, Ji Yiming, Li Guimei, Xu Chao

Abstract excerpt

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 among them, only some have undergone functional analysis. Thus, the correlation between the phenotype and genotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33299522
DOI: 10.1155/2020/2358719
PMCID: PMC7704206

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