4 research outputs found
X-linked hypophosphatemia caused by the prevailing North American PHEX variant c.*231A\u3eG; exon 13–15 duplication is often misdiagnosed as ankylosing spondylitis and manifests in both men and women
Inactivating mutations of the gene coding for phosphate-regulating endopeptidase homolog X-linked (PHEX) cause X-linked hypophosphatemia (XLH). A nove