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Article

A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.

Bone - 1 Feb 2014

Chi Yue, Zhao Zhen, He Xiaodong, Sun Yue, Jiang Yan, Li Mei, Wang Ou, Xing Xiaoping, Sun Andrew Y, Zhou Xueying, Meng Xunwu, Xia Weibo

Abstract excerpt

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by hypophosphatemia, short stature, rickets and/or osteomalacia, and secondary absorptive hypercalciuria. HHRH was recently mapped to chromosome 9q34, which contains the gene SLC34A3 which encodes the renal proximal tubular sodium-phosphate cotransporter...

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Source

Identifiers

PMID: 24246249
DOI: 10.1016/j.bone.2013.11.008

Genes

PTH
FGF23

Variants

Provenance

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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A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.PMID 24246249Read ↗

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