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Article

CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH).

Human molecular genetics - 1 Jul 2016

Sui Tingting, Yuan Lin, Liu Huan, Chen Mao, Deng Jichao, Wang Yong, Li Zhanjun, Lai Liangxue

Abstract excerpt

X-linked hypophosphatemia (XLH) is the most common cause of inheritable rickets, with an incidence of 1/20 000 in humans. Inactivation or mutation of the gene PHEX, a phosphate-regulating endopeptidase, leads to hypophosphatemia and defective bone mineralization in XLH patients. Presently, there is no adequate animal model for safety assessments of physiotherapies and drug screening for XLH rickets. In this...

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Share to Familial Hypophosphatemic Rickets

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblast Growth Factor-23

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Share to PHEX Phosphate Regulating Neutral Endopeptidase

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Source

Identifiers

PMID: 27126636
DOI: 10.1093/hmg/ddw125

Genes

PHEX
FGF23

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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