A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromos...

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Bibliographic Details
Main Authors: Kawahara, Tetsuya, Watanabe, Hiromi, Omae, Risa, Yamamoto, Toshiyuki, Inazu, Tetsuya
Format: Online
Language:English
Published: Hindawi Publishing Corporation 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377384/