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Article

X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.

Bone - 1 Jul 2023

Soto Barros Julio, Sanchez Sabrina I, Cabral Kristin, Beggs Alan H, Agrawal Pankaj B, Genetti Casie A, Brownstein Catherine A, Carpenter Thomas O

Abstract excerpt

X-linked hypophosphatemia is the most common cause of inherited rickets, due to inactivating variants of PHEX. More than 800 variants have been described to date and one which consists of a single base change in the 3' untranslated region (UTR) (c.*231A>G) is reported as prevalent in North America. Recently an exon 13-15 duplication has been found to occur in concert with the c.*231A>G variant, and thus it is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37059315
DOI: 10.1016/j.bone.2023.116763
PMCID: PMC10198939

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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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