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Article

X-linked hypophosphatemic rickets: case report.

Srpski arhiv za celokupno lekarstvo - 1 Jan 2000

Radlović Vladimir, Smoljanić Zeljko, Radlović Nedeljko, Leković Zoran, Ristić Dragana, Ducić Sinisa, Pavićević Polina

Abstract excerpt

INTRODUCTION: X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE: A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to PHEX Phosphate Regulating Neutral Endopeptidase

Source

Identifiers

PMID: 24684036
DOI: 10.2298/sarh1402075r

Genes

PHEX
PTH

Variants

Provenance

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