Article
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
Calcified tissue international - 1 Sept 2009
Clausmeyer S, Hesse V, Clemens P C, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F
Abstract excerpt
X-Linked hypophosphatemic rickets (HYP, XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. The purpose of our study was the detection of inactivating mutations in the PHEX gene, the key enzyme in the pathogenesis of XLH. The 16 patients, representing eight families, presented with suspected XLH from...
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