References
Boland JM, Tebben PJ, Folpe AL (2018) Phosphaturic mesenchymal tumors: what an endocrinologist should know. J Endocrinol Invest 41(10):1173–1184
Sabbagh Y, Boileau G, Campos M et al (2003) Structure and function of disease-causing missense mutations in the PHEX gene. J Clin Endocrinol Metab 88(5):2213–2222
Holm IA, Nelson AE, Robinson BG et al (2001) Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 86(8):3889–3899
Funding
This study was supported by the National Natural Science Foundation of China (81670730, 81100583) and Natural Science Foundation of Hunan Province (2016JJ4103).
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This study was approved by the Institutional Ethics Committee of The Third Xiangya Hospital.
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Written informed consent was obtained from all subjects enrolled in this study, who agreed to join this study, with the intent of using the medical data for scientific research and publication.
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Jin, P., Wang, L.H. & Mo, Z.H. Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets. J Endocrinol Invest 42, 357–359 (2019). https://doi.org/10.1007/s40618-018-0976-z
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DOI: https://doi.org/10.1007/s40618-018-0976-z