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Article

Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Sept 2021

Jiménez M, Ivanovic-Zuvic D, Loureiro C, Carvajal C A, Cavada G, Schneider P, Gallardo E, García C, Gonzalez G, Contreras O, Collins M T, Florenzano P

Abstract excerpt

We report the most comprehensive clinical and molecular characterization of XLH patients performed in Chile. We show high prevalence of musculoskeletal burden and pain, associated with significantly impaired physical capacity and quality of life, with many relevant complications presenting more frequently than previously reported in cohorts from developed countries. INTRODUCTION: Our current understanding of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33666701
DOI: 10.1007/s00198-021-05875-w
PMCID: PMC13202709

Genes

FGF23
PHEX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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