Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.
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DOI: 10.1055/s-0038-1624577
Abstract: Refractory rickets is a genetic disorder that cannot be treated by vitamin D supplementation and adequate dietary calcium and phosphorus. Hereditary hypophosphatemic rickets is one of the major forms of refractory rickets in Indian children… read more here.
Keywords: indian patients; refractory rickets; genetics; genetics refractory ... See more keywords
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures
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DOI: 10.1177/0022034517728497
Abstract: X-linked hypophosphatemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene. Mutated or absent PHEX protein/enzyme leads to a decreased serum phosphate level, which cause mineralization defects in the skeleton and… read more here.
Keywords: xlh; dental pulp; linked hypophosphatemia; mineralization ... See more keywords