Article
X-linked hypophosphatemic rickets and craniosynostosis.
The Journal of craniofacial surgery - 1 Mar 2009
Murthy Ananth S
Abstract excerpt
Bone mineralization is possible via complex interactions among fibroblast growth factor 23 (FGF23), phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX), and matrix extracellular phosphoglycoprotein. A loss-of-function mutation in PHEX disrupts this interaction leading to hypophosphatemic rickets. X-linked hypophosphatemic (XLH) rickets is the most common form of metabolic...
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