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Genotype and Phenotype Analysis in X-Linked Hypophosphatemia

9 Aug 2021

Abstract excerpt

Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations. Methods: PHEX mutations were detected in 55 out of 81 patients who clinically presented with hypophosphatemic rickets. The patients were grouped into nontruncating ( n = 9) and...

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Identifiers

PMID: 34434907
DOI: 10.3389/fped.2021.699767

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