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Article

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

The New England journal of medicine - 25 Mar 2010

Magen Daniella, Berger Liron, Coady Michael J, Ilivitzki Anat, Militianu Daniela, Tieder Martin, Selig Sara, Lapointe Jean Yves, Zelikovic Israel, Skorecki Karl

Abstract excerpt

We describe two siblings from a consanguineous family with autosomal recessive Fanconi's syndrome and hypophosphatemic rickets. Genetic analysis revealed a homozygous in-frame duplication of 21 bp in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, as the causat...

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PMID: 20335586
DOI: 10.1056/NEJMoa0905647

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20335586-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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