Rare Diseases

Current bibliography for experts

"Hypophosphatemic Rickets" search results...

XLH

Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease

2022-12-01

This article reports a rare case of coexistence of the two genetic conditions, X-linked hypophosphatemic rickets (XLH) and m.3243A>G mitochondrial disease.

PHEX

A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia

2022-12-01

This study extends the genetic spectrum of XLH and confirms the rarity and significance of synonymous PHEX variants.

PHEX

Genetic and clinical profile of patients with hypophosphatemic rickets

2022-08-01

This study proposes a customized gene panel for targeted exome sequencing, which will be useful for confirming the diagnosis in most patients with hypophosphatemic rickets.

PHEX

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

2022-07-01

This study highlights the dominant role of PHEX in hypophosphatemic rickets (HR) and expand the genotypic and phenotypic spectra of this disorder.

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

Two de novo mosaic variants within the same site of PHEX gene in a girl with X-linked hypophosphatemic rickets

2022-02-01

This is the first time two different mosaic variants of the PHEX gene have been found in an XLH individual.

XLH

Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia

2021-10-01

Regarding the incidence and consequences of musculoskeletal features in X-linked hypophosphatemia (XLH), all patients should be assessed by a bone disease specialist and, if necessary, managed by a multidisciplinary team.

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.

XLH

Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib

2020-12-24

This case study presents a 41-year-old female with FGF23-mediated hypophosphatemia, with a 26-year delay in TIO (tumor-induced osteomalacia) diagnosis and a concurrent misdiagnosis of X-linked hypophosphatemic rickets (XLH). The study emphasizes the importance of innovative methods for clinicians, such as gene panels, CISH, and RNA sequencing, in characterizing TIO and associated tumors in the form of many phenotypically similar diseases.

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