Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
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DOI: 10.3389/fgene.2022.792183
Abstract: X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550). However, mutations that… read more here.
Keywords: linked hypophosphataemia; mutation; mutation phex; chinese family ... See more keywords