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

<div>Pedigrees of the proband with <i>FGFR1</i> and <i>CEP290</i> mutation. (a) The mutation results in both <i>FGFR1</i> (A) and <i>CEP290</i> (B) from all family members. Arrows: mutation sites. (b) Pedigrees of the proband. Circles: females; squares: males; arrows: proband. (c) The domain structures of both FGFR1 (A) and CEP290 (B) with two mutant sites, respectively. SP: signal peptide; HB: binding domain for heparin or heparin sulfate proteoglycan; PLC sites: interaction with PLC gamma; NB: nuclear-binding domain; TK1/2: tyrosine kinase subdomain 1/2; Ig I, Ig II, and Ig III: three Ig-like domains; TM: transmembrane domain.</div>

Oxidative Medicine and Cellular Longevity

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Figure 1

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

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