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.

Aiello, F., Pasquali, D., Baronio, F., Cassio, A., Rossi, C., Di Fraia, R., et al. (2022). Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 36(1), 91-95 [10.1515/jpem-2022-0365].

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

Baronio, Federico;Cassio, Alessandra;Rossi, Cesare;Maltoni, Giulio;
2022

Abstract

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.
2022
Aiello, F., Pasquali, D., Baronio, F., Cassio, A., Rossi, C., Di Fraia, R., et al. (2022). Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 36(1), 91-95 [10.1515/jpem-2022-0365].
Aiello, Francesca; Pasquali, Daniela; Baronio, Federico; Cassio, Alessandra; Rossi, Cesare; Di Fraia, Rosa; Carotenuto, Raffaela; Digitale, Lucia; Fes...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/902921
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