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January to March 2019 | Vol. 12 | Issue 1 | 09-10
Emerging Therapies for Rare Genetic Disorders
Dr Deepti Saxena
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
Address for Correspondence Email: saxenadrdeepti@gmail.com
X-linked hypophosphatemia, the most common heritable form of rickets, is caused due to loss-of-function mutations in the PHEX gene. It is characterized by increased secretion of fibroblast growth factor 23 (FGF-23) which leads to renal phosphate wasting, hypophosphatemia, rickets and osteomalacia, stunted growth, skeletal deformity, pain and limitation of daily activities.
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