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hrp0094p2-70 | Bone, growth plate and mineral metabolism | ESPE2021

Phenotype characterization of a PHEX intron mutation in an Italian family affected by X linked hypoposphatemic rickets.

Aiello Francesca , Schiano di Cola Roberta , Luongo Caterina , Maltoni Giulio , Cassio Alessandra , Festa Adalgisa , Pasquali Daniela , Del Giudice Emanuele Miraglia , Grandone Anna ,

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

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Phenotype characterization of a PHEX intron mutation in an Italian family affected by X linked hypoposphatemic rickets.

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