Rare Diseases

Current bibliography for experts

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PHEX

X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant

2023-07-17

This article presents a family with X-linked hypophosphatemia (XLH) who harbors the exon 13-15 duplication but does not carry the 3'UTR variant.

XLH

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription

2022-06-02

This study verified the pathogenicity of the two variants and revealed the possible regulatory mechanism between PHEX and FGF23.

XLH

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)

2022-02-01

To centralize and disseminate PHEX variant information, a new PHEX gene locus-specific database, PHEX LSDB, has been established.

XLH

A novel PHEX mutation associated with vitamin D-resistant rickets

2021-08-02

In this article, a case of XLH is presented which is associated with a novel mutation in a phosphate-regulating gene on the X chromosome (PHEX). This mutation may have caused a significant change in higher-order protein structure and function.

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