3 New PHEX Gene Mutations Found in Polish Children With XLH

3 New PHEX Gene Mutations Found in Polish Children With XLH

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3 New PHEX Gene Mutations Found in Polish Children With XLH

Three new mutations in the PHEX gene — which provides instructions for making an enzyme primarily active in the bones and teeth — were found in a study of Polish children with X-linked hypophosphatemia (XLH). The study also highlighted the importance of early treatment for stunted growth, common in XLH. Titled “X-linked hypophosphatemic rickets in children: clinical phenotype, therapeutic strategies and molecular background,” the study was published in the journal Endokrynologia Polska. XLH is the most…

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