
Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia
Keywords: ALP; alkaline phosphatase; ESR; erythrocyte sedimentation rate; EVS; Exome Variant Server; ExAC; Exome Aggregation Consortium; FDG; 18fluorodeoxyglucose; FGF23; fibroblast growth factor-23; PHEX; phosphate-regulating neutral endopeptidase; PsA; psoriatic