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

and height in children with X-linked hypophosphatemia . Journal of Pediatric Orthopaedics 1999 19 114 – 118 . 10.1097/01241398-199901000-00024 8 Sharkey MS Grunseich K Carpenter TO. Contemporary medical and surgical management of

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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

allow invasion of the pulp by oral bacteria (68) . Figure 4 Dental defects in patients with X-linked hypophosphatemia (XLH). (A) Orthopantomogram of a 35-year-old XLH patient. Note multiple absent teeth and endodontic lesions. (B) Orthopantomogram of a

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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

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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

-Filho JS Paiva ME Lopes JM . August 2003: 47-year-old female with a 7-year history of osteomalacia and hypophosphatemia . Brain Pathology 2004 111 – 112 , 115. ( ) 29 Fuentealba C Pinto D

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Weixi Wang, Rulai Han, Lei Ye, Jing Xie, Bei Tao, Fukang Sun, Ran Zhuo, Xi Chen, Xiaxing Deng, Cong Ye, Hongyan Zhao and Shu Wang

process of pancreas. In addition, he had incidental finding of hypercalcemia (2.71–2.79 mmol/L, normal range 2.00–2.75 mmol/L) with hypophosphatemia (0.45–0.58 mmol/L, normal range 0.80–1.60 mmol/L) in the presence of normal serum albumin (35 g/L). His 24