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Article

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.

Endokrynologia Polska - 1 Jan 2021

Obara-Moszynska Monika, Rojek Aleksandra, Kolesinska Zofia, Jurkiewicz Dorota, Chrzanowska Krystyna H, Niedziela Marek

Abstract excerpt

INTRODUCTION: X-linked hypophosphataemic rickets (XLHR) is the most common form of hypophosphataemic rickets (HR), which is caused by mutations in the PHEX gene. The aim of this work was to investigate the clinical phenotype, therapeutic strategies, and molecular background of HR in children hospitalised in our clinic. MATERIAL AND METHODS: Eleven patients aged 5.7-18.25 years were included in this study....

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Identifiers

PMID: 33295632
DOI: 10.5603/EP.a2020.0087

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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