Article
X-linked hypophosphatemic rickets: a new mutation.
Jornal brasileiro de nefrologia - 1 Jan 2000
Maio Patrícia, Mano Lia, Rocha Sara, Baptista Rute Baeta, Francisco Telma, Sousa Helena, Freixo João Parente, Abranches Margarida
Abstract excerpt
Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypophosphatemia,...
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