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Article

Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jan 2023

Aiello Francesca, Pasquali Daniela, Baronio Federico, Cassio Alessandra, Rossi Cesare, Di Fraia Rosa, Carotenuto Raffaela, Digitale Lucia, Festa Adalgisa, Luongo Caterina, Maltoni Giulio, Schiano di Cola Roberta, Del Giudice Emanuele Miraglia, Grandone Anna

Abstract excerpt

OBJECTIVES: Lower limb deformities in children need careful orthopedic evaluation to distinguish physiological forms from pathological ones. X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by PHEX gene mutations where tibial varum can be the first sign. CASE PRESENTATION: We report a family presenting with severe tibial varum, harbouring a rare PHEX intron mutation, c.1586+6T>C. This is the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36351286
DOI: 10.1515/jpem-2022-0365

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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