![A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family - Li - 2020 - Molecular Genetics & Genomic Medicine - Wiley A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family - Li - 2020 - Molecular Genetics & Genomic Medicine - Wiley](https://onlinelibrary.wiley.com/cms/asset/85db61d6-dd4a-4698-ba08-a8d552481087/mgg31262-toc-0001-m.jpg?trick=1691564875965)
A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family - Li - 2020 - Molecular Genetics & Genomic Medicine - Wiley
![FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization | American Journal of Physiology-Endocrinology and Metabolism FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization | American Journal of Physiology-Endocrinology and Metabolism](https://journals.physiology.org/cms/10.1152/ajpendo.00016.2003/asset/images/medium/h10731312002.jpeg)
FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization | American Journal of Physiology-Endocrinology and Metabolism
![FGF23 and its role in X-linked hypophosphatemia-related morbidity | Orphanet Journal of Rare Diseases | Full Text FGF23 and its role in X-linked hypophosphatemia-related morbidity | Orphanet Journal of Rare Diseases | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-019-1014-8/MediaObjects/13023_2019_1014_Fig2_HTML.png)
FGF23 and its role in X-linked hypophosphatemia-related morbidity | Orphanet Journal of Rare Diseases | Full Text
![Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription | Cell Death & Disease Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription | Cell Death & Disease](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41419-022-04969-5/MediaObjects/41419_2022_4969_Fig1_HTML.png)
Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription | Cell Death & Disease
![Genes | Free Full-Text | PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease Genes | Free Full-Text | PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease](https://www.mdpi.com/genes/genes-13-01356/article_deploy/html/images/genes-13-01356-g008.png)
Genes | Free Full-Text | PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease
![Dual putative local/systemic function of PHEX in normal mineralization... | Download Scientific Diagram Dual putative local/systemic function of PHEX in normal mineralization... | Download Scientific Diagram](https://www.researchgate.net/publication/319549158/figure/fig4/AS:744279366438930@1554461437720/Dual-putative-local-systemic-function-of-PHEX-in-normal-mineralization-relevant-to.png)
Dual putative local/systemic function of PHEX in normal mineralization... | Download Scientific Diagram
![A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia | Science Advances A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia | Science Advances](https://www.science.org/cms/10.1126/sciadv.abj5018/asset/a812b231-97e5-492b-bb85-c76bf4daf3c5/assets/images/large/sciadv.abj5018-f1.jpg)
A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia | Science Advances
![Diagram of the PHEX gene showing the mutations detected in this study... | Download Scientific Diagram Diagram of the PHEX gene showing the mutations detected in this study... | Download Scientific Diagram](https://www.researchgate.net/publication/11841798/figure/fig1/AS:601591786790937@1520442067796/Diagram-of-the-PHEX-gene-showing-the-mutations-detected-in-this-study-in-bold-and-in-the.png)
Diagram of the PHEX gene showing the mutations detected in this study... | Download Scientific Diagram
![Frontiers | Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia Frontiers | Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia](https://www.frontiersin.org/files/Articles/792183/fgene-13-792183-HTML/image_m/fgene-13-792183-g003.jpg)
Frontiers | Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
![Schematic representation of the PHEX gene with the localization of the... | Download Scientific Diagram Schematic representation of the PHEX gene with the localization of the... | Download Scientific Diagram](https://www.researchgate.net/publication/51628648/figure/fig1/AS:195886446583817@1423714376763/Schematic-representation-of-the-PHEX-gene-with-the-localization-of-the-mutations-found-in.png)
Schematic representation of the PHEX gene with the localization of the... | Download Scientific Diagram
![Frontiers | Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia Frontiers | Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia](https://www.frontiersin.org/files/Articles/617738/fcell-09-617738-HTML-r1/image_m/fcell-09-617738-g001.jpg)