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Paper Details

Rare <i>PHEX</i> variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia.
BMJ Case Rep
1
2021
Hypophosphatemia, PHEX, PHEX gene variant, X-linked hypophosphatemia, X-linked hypophosphatemic, XLHR, alkaline phosphatase, anti-FGF23 monoclonal antibody, c.1949T, c.1949T>C, femoral bowing, girl, her intoeing, p.Leu650Pro, patients, phosphorus, skeletal deformities, vitamin D
Author NameAffiliation
Andrew M SouthWake Forest University School of Medicine
Andrew M SouthWake Forest University School of Medicine
Andrew M SouthWake Forest University School of Medicine
Andrew M SouthWake Forest University School of Medicine
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Release 1.2