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Article

A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Oct 2008

Page Kathleen, Bergwitz Clemens, Jaureguiberry Graciana, Harinarayan Chittari V, Insogna Karl

Abstract excerpt

OBJECTIVE: To determine if there was a genetic contribution to our patient's unusual clinical presentation of nephrolithiasis and nonhealing stress fracture. METHODS: We describe a 31-year-old man who had rickets as a child and developed a femur insufficiency fracture and recurrent nephrolithiasis as an adult after moving to the United States from India. The patient's clinical course and results from radiographic...

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Identifiers

PMID: 18996815
DOI: 10.4158/EP.14.7.869
PMCID: PMC2773288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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