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Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease.

Calcified tissue international - 1 Dec 2022

Nielsen Simone Rask, Hansen Stinus Gadegaard, Bistrup Claus, Brusgaard Klaus, Frederiksen Anja Lisbeth

Abstract excerpt

X-linked hypophosphatemic rickets (XLH) and m.3243A>G mitochondrial disease share several clinical findings, including short stature, hearing impairment (HI), nephropathy, and hypertension. Here, we report on a case with the rare coincidence of these two genetic conditions. In early childhood, the patient presented with hypophosphatemia and bone deformities and was clinically diagnosed with XLH. This was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35916905
DOI: 10.1007/s00223-022-01010-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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