A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of X-linked hypophosphatemic rickets in a patient with a rare pathogenic PHEX var...
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Korean Society of Pediatric Endocrinology,
2021-06-01T00:00:00Z.
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