E-ISSN 1858-8360 | ISSN 0256-4408
 

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X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.

Badi Alenazi, M A Maleque Molla, Abdullah Alshaya, Mahmoud Saleh.

Abstract
Hypophosphatemic rickets is a rare form of rickets that affect children. The diagnosis requires high index of suspicion. We report a case of Hypophosphatemic rickets in 18-month-old Saudi boy presented with delayed walking and lower limb deformity. The diagnosis was confirmed by bone profile, radiological study and genetic testing, which reveled PHEX mutation. The patient was successfully treated by phosphate supplement.

Key words: Hypophosphatemic rickets; PHEX gene mutation


 
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How to Cite this Article
Pubmed Style

Alenazi B, Molla MAM, Alshaya A, Saleh M. X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.. Sudan J Paed. 2017; 17(1): 61-65.


Web Style

Alenazi B, Molla MAM, Alshaya A, Saleh M. X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.. http://www.sudanjp.com/?mno=285368 [Access: August 13, 2020].


AMA (American Medical Association) Style

Alenazi B, Molla MAM, Alshaya A, Saleh M. X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.. Sudan J Paed. 2017; 17(1): 61-65.



Vancouver/ICMJE Style

Alenazi B, Molla MAM, Alshaya A, Saleh M. X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.. Sudan J Paed. (2017), [cited August 13, 2020]; 17(1): 61-65.



Harvard Style

Alenazi, B., Molla, . M. A. M., Alshaya, . A. & Saleh, . M. (2017) X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.. Sudan J Paed, 17 (1), 61-65.



Turabian Style

Alenazi, Badi, M A Maleque Molla, Abdullah Alshaya, and Mahmoud Saleh. 2017. X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.. Sudanese Journal of Paediatrics, 17 (1), 61-65.



Chicago Style

Alenazi, Badi, M A Maleque Molla, Abdullah Alshaya, and Mahmoud Saleh. "X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.." Sudanese Journal of Paediatrics 17 (2017), 61-65.



MLA (The Modern Language Association) Style

Alenazi, Badi, M A Maleque Molla, Abdullah Alshaya, and Mahmoud Saleh. "X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.." Sudanese Journal of Paediatrics 17.1 (2017), 61-65. Print.



APA (American Psychological Association) Style

Alenazi, B., Molla, . M. A. M., Alshaya, . A. & Saleh, . M. (2017) X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.. Sudanese Journal of Paediatrics, 17 (1), 61-65.





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