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Article

X-linked hypophosphatemic rickets: a rare case report.

Acta orthopaedica Belgica - 1 Sept 2025

Yuan L, Chen W, Li G, Xu Y, Zhang G, Zhou G, Diao S, Zhong H

Abstract excerpt

X-linked hypophosphatemic rickets (XLHR) is a rare hereditary disease. To date, the diagnosis and treatment of XLHR is still in dilemma due to a lack of cases. In the consensus recommendations for the XLHR proposed in Belgium, next-generation sequencing (NGS) is recommended in several genetic centers for PHEX and other skeletal dysplasia genes. We reported our experiences on the diagnosis and treatment of XLHR. A...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to PHEX Phosphate Regulating Neutral Endopeptidase

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Identifiers

PMID: 41766551
DOI: 10.52628/91.3.13791

Genes

PHEX

Variants

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