Article

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

2021-02-01

Abstract excerpt

<title>Abstract</title> <p><bold>BACKGROUND </bold>X-Linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in <italic>PHEX </italic>gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series of pati...

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Literature Corpus work: 16ae104a-21e9-57f4-b638-f741b5e4bb99
DOI: 10.21203/rs.3.rs-37967/v3

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