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Article

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2015

Razali Nurul Nadirah, Hwu Ting Tzer, Thilakavathy Karuppiah

Abstract excerpt

Hypophosphatemic rickets (HR) is a syndrome of hypophosphatemia and rickets that resembles vitamin D deficiency, which is caused by malfunction of renal tubules in phosphate reabsorption. Phosphate is an essential mineral, which is important for bone and tooth structure. It is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D and fibroblast-growth-factor 23 (FGF23). X-linked hypophosphatemia (XLH),...

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Source

Identifiers

PMID: 25894638
DOI: 10.1515/jpem-2014-0366

Genes

FGF23
DMP1
ENPP1
PHEX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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