Article

Novel PHEX Variants and Splicing Mutations in Patients with X-Linked Hypophosphatemia

2021-09-14

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> X-linked hypophosphatemia rickets (XLH) is a genetic disorder of phosphate wasting that causes the majority of inherited hypophosphatemic rickets. The disease is caused by mutations in the phosphate-regulating endopeptidase gene (<italic>PHEX</italic>). All types of mutations have been detected in the <italic>PHEX</italic> gene. There is no clear preference for...

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Literature Corpus work: 07b3a45f-958d-59a2-834e-97a17bc16cc6
DOI: 10.21203/rs.3.rs-789542/v1

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