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A Gizard, A Rothenbuhler, Z Pejin, G Finidori, C Glorion, B de Billy, A Linglart and P Wicart

Introduction X-linked hypophosphatemic rickets (XLHR) is the most frequent cause of genetic and heritable rickets. It is caused by mutations damaging the function of the endopeptidase encoded by the PHEX gene located on the X chromosome ( 1

Open access

Agnès Linglart, Martin Biosse-Duplan, Karine Briot, Catherine Chaussain, Laure Esterle, Séverine Guillaume-Czitrom, Peter Kamenicky, Jerome Nevoux, Dominique Prié, Anya Rothenbuhler, Philippe Wicart and Pol Harvengt

, McCune–Albright syndrome; TIO, tumor-induced osteomalacia; HHRH, hereditary hypophosphatemic rickets with hypercalciuria. Causes of phosphate wasting secondary to elevated FGF23 mainly encompass not only X-linked hypophosphatemic rickets (XLHR) due to

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Volha V Zhukouskaya, Anya Rothenbuhler, Annamaria Colao, Carolina Di Somma, Peter Kamenický, Séverine Trabado, Dominique Prié, Christelle Audrain, Anna Barosi, Christèle Kyheng, Anne-Sophie Lambert and Agnès Linglart

Introduction X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked ( PHEX ) gene and characterized by chronic hypophosphatemia. Impaired function of PHEX

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Ravikumar Shah, Anurag R Lila, Ramteke-Swati Jadhav, Virendra Patil, Abhishek Mahajan, Sushil Sonawane, Puja Thadani, Anil Dcruz, Prathamesh Pai, Munita Bal, Subhada Kane, Nalini Shah and Tushar Bandgar

:female ratio is reported in head and neck TIO patients ( 3 ). Middle age is the most common age at presentation and three pediatric cases are reported so far. TIO is a difficult diagnosis in pediatric patients as heritable hypophosphatemic rickets is a more

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Rimesh Pal, Sanjay Kumar Bhadada, Awesh Singhare, Anil Bhansali, Sadishkumar Kamalanathan, Manoj Chadha, Phulrenu Chauhan, Ashwani Sood, Vandana Dhiman, Dinesh Chandra Sharma, Uma Nahar Saikia, Debajyoti Chatterjee and Vikas Agashe

oncogenic osteomalacia and X-linked hypophosphatemia . New England Journal of Medicine 2003 348 1656 – 1663 . ( ) 10.1056/NEJMoa020881 36 Burnett S-AM Gunawardene SC Bringhurst FR Jüppner H Lee H Finkelstein JS