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Objective:  X-linked hypophosphatemic (XLH) rickets is caused by inactivating mutations in the  PHEX  gene, which encodes a metalloprotease that cleaves small peptide hormone. So far there are only a few reports on XLH patients from China. In the present study, we report on six XLH patients from one family. A  PHEX  missense mutation was found in exon 22, and a literature review on the mutations of Chinese patients was undertaken.

PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets