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...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2020-01-01
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Series: | Oxidative Medicine and Cellular Longevity |
Online Access: | http://dx.doi.org/10.1155/2020/2358719 |