The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
To the Editor:We reported a 46-year-old man presented with progressive pain in his left lower extremities for more than 5 years.Physical examination showed short stature,"O"-type bending in his lower extremities,and "penguin" gait.The family tree of the proband's pedigree is shown in Figure 1A,and the X-rays of his skull are shown in Figure 1B.
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