PHEX is the gene defective in X-linked hypophosphatemic rickets. In this study, analysis of
PHEX revealed mutations in 22 hypophosphatemic rickets patients, including 16 of 28 …

X-linked hypophosphatemic rickets (XLH) is the most common inherited rickets. XLH is
caused by inactivating mutations in the PHEX gene and is transmitted as an X-linked …

Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP)
associated with a renal tubular defect in phosphate transport and bone deformities. The XLH …

X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized
by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone …

Familial hypophosphatemic rickets is a rare disease, which is mostly transmitted as an X-
linked dominant trait, and mutations on the phosphate regulating gene with homologies to …

We have carried out a mutation screening of the PHEX gene in Finnish patients with
hypophosphatemia. A total of 100%(5/5) of the familial HYP patients (X‐linked …

Context: Familial hypophosphatemic rickets is usually transmitted as an X-linked dominant
disorder (XLH), although autosomal dominant forms have also been observed. Genetic …

ABSTRACT X‐linked hypophosphatemia (XLHR) is caused by loss‐of‐function mutations in
the phosphate regulating endopeptidase homolog X‐linked (PHEX) gene. Considerable …

X-linked dominant hypophosphatemia (XLH, OMIM307800), the most prevalent form of
inherited rickets in humans, is a dominant disorder of phosphate homeostasis characterized …

Abstract Background Genetic Hypophosphatemic Rickets (HR) is a group of diseases
characterized by renal phosphate wasting with inappropriately low or normal 1, 25 …